Varaico: Literature-Extracted Genetic Variants

Gene:CELSR2
Variant:p.R539C
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CELSR2

NM_001408.3:p.R539C

Associated Papers

Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models.

Romano F et al.

Birth Defects Research, 2025

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.

Viggiano M et al.

Npj Genomic Medicine, 2024

38519481 (PubMed )
Supplement: 41525_2024_411_MOESM1_ESM.pdf

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC et al.

Plos Computational Biology, 2014

25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12
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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."