Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.H440L
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GDF5

NM_000557.5:p.H440L

Associated Papers

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

Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity.

Kotzsch A et al.

The Embo Journal, 2009

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.

Szczaluba K et al.

American Journal of Medical Genetics. Part A, 2005

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