Evidence map›Paper›PMID 37109656›Full record

ArticleMedicina (Kaunas, Lithuania)2023

Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C.

Ji-In Seo, Chikako Nishigori, Jung Jin Ahn, Jae Young Ryu, Junglok Lee, Mu-Hyoung Lee, Su Kang Kim, Ki-Heon Jeong

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Medicina (Kaunas, Lithuania), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 89% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

8 authors at 3 institutions in 2 countries.

Ji-In SeoDepartment of Dermatology, College of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea.
Chikako NishigoriDivision of Dermatology, Internal Related, Graduate School of Medicine, Kobe University, Kobe 653-0002, Japan.
Jung Jin AhnDepartment of Oral Anatomy and Developmental Biology, Graduate School, Kyung Hee University, Seoul 02447, Republic of Korea.
Jae Young RyuDepartment of Oral Anatomy and Developmental Biology, Graduate School, Kyung Hee University, Seoul 02447, Republic of Korea.
Junglok LeeDepartment of Medicine, Graduate School, Kyung Hee University, Seoul 02447, Republic of Korea.
Mu-Hyoung LeeDepartment of Dermatology, College of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea.
Su Kang KimDepartment of Biomedical Laboratory Science, Catholic Kwandong University, Gangneung 25601, Republic of Korea.
Ki-Heon JeongDepartment of Dermatology, College of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea.
Kyung Hee University · KRCatholic Kwandong University · KRKobe University · JP

Funding

National Research Foundation of Korea (NRF) funded by the Ministry of Education 2022RIS-00
6 · The paper itself

Abstract

A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous nonsense mutation in the

Indexed as

Xeroderma PigmentosumAdolescentDNA-Binding ProteinsDNA RepairExome SequencingFemaleHumansMaleMutationPhenotypeDNA-Binding Proteinsbioinformatics analysiswhole exome sequencingxeroderma pigmentosum group CXPC

Identifiers

PMID37109656
PMCPMC10144254
OpenAlexW4362557552

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.