Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.I292L
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BMPR1A

NM_004329.3:p.I292L

Associated Papers

Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.

Mao F et al.

Human Mutation, 2015

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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."