Varaico: Literature-Extracted Genetic Variants

Gene:ESRP2
Variant:p.R315H
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ESRP2

NM_024939.3:p.R315H

Associated Papers

Genetic requirement for Esrp1/2 in vertebrate pituitary morphogenesis.

Carroll SH et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.

Caetano da Silva C et al.

Communications Biology, 2024

Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.

da Silva CC et al.

Biorxiv : the Preprint Server for Biology, 2024

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Cox LL et al.

American Journal of Human Genetics, 2018

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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."