Varaico: Literature-Extracted Genetic Variants

Gene:CELSR1
Variant:p.R2121C
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CELSR1

NM_001378328.1:p.R2121C

Associated Papers

Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.

Alpaslan M et al.

Journal of Medical Genetics, 2023

A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.

Juriloff DM et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.

Allache R et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012

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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."