Varaico: Literature-Extracted Genetic Variants

Gene:ITGA6
Variant:p.S270delFs
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ITGA6

NM_000210.4:p.S270delFs

Associated Papers

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

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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."