Varaico: Literature-Extracted Genetic Variants

Gene:ITGA6
Variant:p.I588I
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ITGA6

NM_000210.4:p.I588I

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

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."