Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1B
Variant:p.R401*
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BMPR1B

NM_001256793.2:p.R401*

Associated Papers

A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.

Lhousni S et al.

Bone, 2023

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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."