Varaico: Literature-Extracted Genetic Variants

Gene:BMS1
Variant:p.R930H
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BMS1

NM_014753.4:p.R930H

Associated Papers

Uncovering the assembly pathway of human ribosomes and its emerging links to disease.

Bohnsack KE et al.

The Embo Journal, 2019

Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report.

Islam YF et al.

Clinical Case Reports, 2017

BMS1 is mutated in aplasia cutis congenita.

Marneros AG

Plos Genetics, 2013

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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."