Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.R377W
Back to variants list

GDF5

NM_000557.5:p.R377W

Associated Papers

Diagnostic yield of exome sequencing in congenital vertical talus.

Tayebi N et al.

European Journal of Medical Genetics, 2022

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.

Umair M et al.

Congenital Anomalies, 2017

Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.

Martinez-Garcia M et al.

Journal of Bone and Mineral Metabolism, 2016

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."