Varaico: Literature-Extracted Genetic Variants

Gene:KRT82
Variant:p.S507T
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KRT82

NM_033033.4:p.S507T

Associated Papers

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Rivière JB et al.

Nature Genetics, 2012

22729224 (PubMed )
Supplement: NIHMS382270-supplement-1.pdf
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