Varaico: Literature-Extracted Genetic Variants

Gene:BMP1
Variant:p.R274Q
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BMP1

NM_006129.5:p.R274Q

Associated Papers

Mutations associated with human neural tube defects display disrupted planar cell polarity in Drosophila.

Humphries AC et al.

Elife, 2020

Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.

De Marco P et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014

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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."