Varaico: Literature-Extracted Genetic Variants

Gene:CELSR1
Variant:p.S2964L
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CELSR1

NM_001378328.1:p.S2964L

Associated Papers

Identification of novel CELSR1 mutations in spina bifida.

Lei Y et al.

Plos One, 2014

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

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.

Robinson A et al.

Human Mutation, 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."