Varaico: Literature-Extracted Genetic Variants

Gene:NECTIN4
Variant:p.H83Y
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NECTIN4

NM_030916.3:p.H83Y

Associated Papers

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.

Ali G et al.

Genetics Research, 2023

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.

Rotunno R et al.

Genes, 2021

A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.

Dardour L et al.

Molecular Syndromology, 2017

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.

Hajra B et al.

Anais Brasileiros De Dermatologia, 0

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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."