Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.R399C
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GDF5

NM_000557.5:p.R399C

Associated Papers

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Racacho L et al.

European Journal of Human Genetics : Ejhg, 2015

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

Degenkolbe E et al.

Plos Genetics, 2013

Mutations in GDF5 presenting as semidominant brachydactyly A1.

Byrnes AM et al.

Human Mutation, 2010

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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."