Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB1
Variant:p.R46W
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CHRNB1

NM_000747.3:p.R46W

Associated Papers

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Morgan NV et al.

American Journal of Human Genetics, 2006

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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."