Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.E3694Q
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FLG

NM_002016.2:p.E3694Q

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

Human papillomavirus integration perspective in small cell cervical carcinoma.

Wang X et al.

Nature Communications, 2022

36216793 (PubMed )
Supplement: 41467_2022_33359_MOESM21_ESM.xlsx › Supplementary_Data18

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."