Varaico: Literature-Extracted Genetic Variants

Gene:CELSR1
Variant:p.N1110K
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CELSR1

NM_001378328.1:p.N1110K

Associated Papers

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice.

Murdoch JN et al.

Disease Models & Mechanisms, 2014

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."