Varaico: Literature-Extracted Genetic Variants

Gene:CELSR1
Variant:p.P2983A
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CELSR1

NM_001378328.1:p.P2983A

Associated Papers

Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.

Wang M et al.

Cells, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.

Patel D et al.

Jama Network Open, 2019

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

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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."