Varaico: Literature-Extracted Genetic Variants

Gene:CELSR2
Variant:p.N953S
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CELSR2

NM_001408.3:p.N953S

Associated Papers

Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.

Marszałek-Kruk BA et al.

Journal of Clinical Medicine, 2026

Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in Xenopus trachea-esophageal morphogenesis.

Edwards NA et al.

Developmental Cell, 2025

Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in trachea-esophageal morphogenesis.

Edwards NA et al.

Biorxiv : the Preprint Server for Biology, 2024

Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.

Zhong G et al.

Hgg Advances, 2022

35519826 (PubMed )
Supplement: mmc2.xlsx › S4._De_novo_Variants

Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing.

Wang J et al.

European Journal of Human Genetics : Ejhg, 2021

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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."