Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.R3738H
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FLG

NM_002016.2:p.R3738H

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

DUSP5 and PHLDA1 mutations in mature cystic teratomas of the ovary identified on whole-exome sequencing may explain teratoma characteristics.

Wang WC et al.

Human Genomics, 2022

36289533 (PubMed )
Supplement: 40246_2022_424_MOESM1_ESM.xlsx › ___1

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.

Park KY et al.

Journal of Korean Medical Science, 2016

27366014 (PubMed )
Supplement: jkms-31-1136-s001.pdf

Copy-number variation of the filaggrin gene in Korean patients with atopic dermatitis: what really matters, 'number' or 'variation'?

Li K et al.

The British Journal of Dermatology, 2016

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.

Kiritsi D et al.

The Journal of Allergy and Clinical Immunology, 2015

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Nasuno T et al.

Cancer Science, 2014

24219164 (PubMed )
Supplement: cas0105-0202-SD3.xlsx › TE-6

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › gtl16_f40r3
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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."