Varaico: Literature-Extracted Genetic Variants

Gene:CAPN2
Variant:p.P49P
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CAPN2

NM_001748.5:p.P49P

Associated Papers

Somatic activating mutations in MAP2K1 cause melorheostosis.

Kang H et al.

Nature Communications, 2018

29643386 (PubMed )
Supplement: 41467_2018_3720_MOESM2_ESM.xlsx › WES-mutations.txt
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