Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.A382delFs
Back to variants list

GDF5

NM_000557.5:p.A382delFs

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

A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.

Gutiérrez-Amavizca BE et al.

European Journal of Medical Genetics, 2012

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.

Faiyaz-Ul-Haque M et al.

Journal of Bone and Mineral Metabolism, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."