Varaico: Literature-Extracted Genetic Variants

Gene:NECTIN4
Variant:p.L81P
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NECTIN4

NM_030916.3:p.L81P

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 homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.

Ahmad F et al.

Annals of Human Genetics, 2018

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."