Evidence map›Paper›PMID 34707637›Full record

ArticleFrontiers in genetics2021

Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.

Linya Ma, Jianjian Zhu, Jing Wang, Yazhou Huang, Jibo Zhang, Chao Wang, Yuan Zhou, Dan Peng

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

Article in Frontiers in genetics, 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
0.1field-weighted citation impact, top 58% 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, 1 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

8 authors at 3 institutions in 1 country.

Linya MaDepartment of Medical Genetics, Changde First People's Hospital, Changde, China.
Jianjian ZhuDepartment of Medical Genetics, Changde First People's Hospital, Changde, China.
Jing WangChangsha Kingmed Center for Clinical Laboratory, Changsha, China.
Yazhou HuangDepartment of Medical Genetics, Changde First People's Hospital, Changde, China.
Jibo ZhangDepartment of Medical Genetics, Changde First People's Hospital, Changde, China.
Chao WangDepartment of Medical Genetics, Changde First People's Hospital, Changde, China.
Yuan ZhouDepartment of Medical Genetics, Changde First People's Hospital, Changde, China.
Dan PengDepartment of Medical Genetics, Changde First People's Hospital, Changde, China.
The First People's Hospital of Changde · CNKingmed Diagnostics · CNUniversity of South China · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in

methodsIn this study, we reviewed the records of OCA2 patients who had conducted albinism genetic testing, and then analyzed the clinical and genetic information of 28 OCA2 patients who had been genetically diagnosed by using Sanger sequencing and next-generation sequencing.

resultsIn this study, we reported 31 variants screened from 28 Chinese OCA2 families, and characterized the detailed molecular and clinical presentations. There were 12 novel variants among all detected variants, including 3 missense variants (p.G393V, p.T482A, and p.R720P), 4 frameshift variants (p.R53Gfs

conclusionOur results were beneficial for diagnosis and precision clinical management for

Indexed as

missense variantsnext-generation sequencingnovel variantsOCA2 geneoculocutaneous albinism

Identifiers

PMID34707637
PMCPMC8544823
OpenAlexW3205962812

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.