Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.C104R
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PTPN11

NM_002834.5:p.C104R

Associated Papers

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Tarailo-Graovac M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28471432 (PubMed )
Supplement: gim201750x2.xlsx › TableS2B
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