Varaico: Literature-Extracted Genetic Variants

Gene:ITGA6
Variant:p.R540*
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ITGA6

NM_000210.4:p.R540*

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

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

Ashton GH et al.

The British Journal of Dermatology, 2001

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.

Lépinard C et al.

Prenatal Diagnosis, 2000

A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination.

Gache Y et al.

The Journal of Investigative Dermatology, 1998

[Epidermolysis bullosa letalis. Antenatal exclusion diagnosis].

Blanchet-Bardon C et al.

Presse Medicale (paris, France : 1983), 1984

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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."