Varaico: Literature-Extracted Genetic Variants

Gene:ITGA6
Variant:p.R835_V836Splc
Back to variants list

ITGA6

NM_000210.4:p.R835_V836Splc

Associated Papers

Case Report: Alpha6 Integrin Disorder Presenting in Childhood with Nail Dysplasia and Onycholysis But No History of Fragile or Bullous Skin Changes.

Zalesny AN et al.

Global Medical Genetics, 2024

Very-Early-Onset Inflammatory Bowel Disease in a Patient With Junctional Epidermolysis Bullosa With a Homozygous Mutation in the α6 Integrin Gene (ITGA6).

Vahidnezhad H et al.

Inflammatory Bowel Diseases, 2021

Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia.

Masunaga T et al.

The Journal of Dermatology, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."