Evidence map›Paper›PMID 34066320›Full record

Observational studyGenes2021

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).

Eu Jeen Yang, Ye Jee Shim, Heung Sik Kim, Young Tak Lim, Ho Joon Im, Kyung-Nam Koh, Hyery Kim, Jin Kyung Suh, Eun Sil Park, Na Hee Lee and 10 more

Open access · goldAbstract readMulticenter StudyObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 45% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors at 12 institutions in 1 country.

Eu Jeen YangDepartment of Pediatrics, Pusan National University School of Medicine, Pusan National University Children's Hospital, Yangsan 50612, Korea.ORCID 0000-0002-3796-6242
Ye Jee ShimDepartment of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Daegu 42601, Korea.ORCID 0000-0002-5047-3493
Heung Sik KimDepartment of Pediatrics, Keimyung University School of Medicine, Keimyung University Daegu Dongsan Hospital, Daegu 41931, Korea.
Young Tak LimDepartment of Pediatrics, Pusan National University School of Medicine, Pusan National University Children's Hospital, Yangsan 50612, Korea.
Ho Joon ImDepartment of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center Children's Hospital, Seoul 05505, Korea.
Kyung-Nam KohDepartment of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center Children's Hospital, Seoul 05505, Korea.
Hyery KimDepartment of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center Children's Hospital, Seoul 05505, Korea.ORCID 0000-0003-2852-6832
Jin Kyung SuhDepartment of Pediatrics, Korea Cancer Center Hospital, Seoul 01812, Korea.
Eun Sil ParkDepartment of Pediatrics, Gyeongsang National University College of Medicine, Gyeongsang National University Hospital, Jinju 52727, Korea.
Na Hee LeeDepartment of Pediatrics, Cha Bundang Medical Center, Cha University, Seongnam 13496, Korea.
Young Bae ChoiDepartment of Pediatrics, Ajou University School of Medicine, Ajou University Hospital, Suwon 16499, Korea.
Jeong Ok HahDepartment of Pediatrics, Daegu Fatima Hospital, Daegu 41199, Korea.
Jae Min LeeDepartment of Pediatrics, Yeungnam University College of Medicine, Daegu 42415, Korea.ORCID 0000-0001-6822-1051
Jung Woo HanDepartment of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, Seoul 03722, Korea.
Jae Hee LeeDepartment of Pediatrics, Chungbuk National University School of Medicine, Chungbuk National University Hospital, Cheongju 28644, Korea.
Young-Ho LeeDepartment of Pediatrics, Hanyang University Seoul Hospital, Seoul 04763, Korea.
Hye Lim JungDeparment of Pediatrics, Sungkyunkwan University School of Medicine, Kangbuk Samsung Hospital, Seoul 03181, Korea.
Jung-Sook HaDepartment of Laboratory Medicine, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Daegu 42601, Korea.
Chang-Seok KiGreen Cross Genome, Yongin 16924, Korea.
On Behalf Of The Benign Hematology Committee Of The Korean Pediatric Hematology Oncology Group Kphog
Ulsan College · KRChungbuk National University Hospital · KRKeimyung University · KRPusan National University Yangsan Hospital · KRAjou University Hospital · KRCHA University Bundang Medical Center · KRDaegu Fatima Hospital · KRGreen Cross (South Korea) · KRGyeongsang National University Hospital · KRHanyang University Seoul Hospital · KRKangbuk Samsung Hospital · KRYonsei University Health System · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The diagnosis of inherited platelet function disorders (IPFDs) is challenging owing to the unavailability of essential testing methods, including light transmission aggregometry and flow cytometry, in several medical centers in Korea. This study, conducted by the Korean Pediatric Hematology Oncology Group from March 2017 to December 2020, aimed to identify the causative genetic variants of IPFDs in Korean patients using next-generation sequencing (NGS). Targeted exome sequencing, followed by whole-genome sequencing, was performed for diagnosing IPFDs. Of the 11 unrelated patients with suspected IPFDs enrolled in this study, 10 patients and 2 of their family members were diagnosed with Glanzmann thrombasthenia (GT). The variant c.1913+5G>T of

Indexed as

Polymorphism, Single NucleotideChild, PreschoolFemaleGene FrequencyHumansInfantInfant, NewbornIntegrin alpha2Integrin beta3MaleRepublic of KoreaThrombastheniaIntegrin alpha2Integrin beta3ITGA2B protein, humanITGB3 protein, humanblood platelet disordershigh-throughput nucleotide sequencingthrombastheniawhole exome sequencingwhole genome sequencing

Identifiers

PMID34066320
PMCPMC8148153
OpenAlexW3159470586

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.