Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.G27R
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SHH

NM_000193.4:p.G27R

Associated Papers

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E et al.

American Journal of Human Genetics, 2019

30905399 (PubMed )
Supplement: mmc4.pdf

IntOGen-mutations identifies cancer drivers across tumor types.

Gonzalez-Perez A et al.

Nature Methods, 2013

24037244 (PubMed )
Supplement: 41592_2013_BFnmeth2642_MOESM309_ESM.pdf
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