Title : Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.

Pub. Date : 2020 Sep 18

PMID : 32948239






1 Functional Relationships(s)
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1 We identified a paternal heterozygous germline mutation c.1852 T > C, which results in the substitution of cysteine by arginine in the RET-receptor tyrosine kinase (p.C618R mutation). Cysteine ret proto-oncogene Homo sapiens