Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.R1469H
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FLG

NM_002016.2:p.R1469H

Associated Papers

Rare Filaggrin Variants Are Associated with Pustular Skin Diseases in Asians.

Lo Piccolo L et al.

International Journal of Molecular Sciences, 2024

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

SMARC-B1 deficient sinonasal carcinoma metastasis to the brain with next generation sequencing data: a case report of perineural invasion progressing to leptomeningeal invasion.

Gomez-Acevedo H et al.

Bmc Cancer, 2019

Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.

Kim M et al.

Plos One, 2017

29281699 (PubMed )
Supplement: pone.0190077.s002.xlsx › Sheet1
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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."