Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.T2863S
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FLG

NM_002016.2:p.T2863S

Associated Papers

Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.

Miao Y et al.

Molecular Genetics & Genomic Medicine, 2025

40985600 (PubMed )
Supplement: MGG3-13-e70135-s001.zip › Supplemental_Materials_2 › father.xlsx › Sheet1

CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.

Guo J et al.

Human Genomics, 2025

40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Körber V et al.

Nature Genetics, 2023

36973454 (PubMed )
Supplement: 41588_2023_1332_MOESM4_ESM.xlsx › Supplementary_Table_7

A glioneuronal tumor with CLIP2-MET fusion.

Chowdhury T et al.

Npj Genomic Medicine, 2020

32550005 (PubMed )
Supplement: 41525_2020_131_MOESM2_ESM.xlsx › Mutation__exonic_splicing_
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."