Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.R100fs
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GDF5

NM_000557.5:p.R100fs

Associated Papers

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.

Al-Qattan MM et al.

American Journal of Medical Genetics. Part A, 2015

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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."