Varaico: Literature-Extracted Genetic Variants

Gene:ITGA6
Variant:p.S264delFs
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ITGA6

NM_000210.4:p.S264delFs

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

Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant.

Ghazzawi RA et al.

Cureus, 2023

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.

Mariath LM et al.

Clinical Genetics, 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

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

Ashton GH et al.

The British Journal of Dermatology, 2001

A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.

Ruzzi L et al.

The Journal of Clinical Investigation, 1997

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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."