Title : Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report.

Pub. Date : 2016 Oct 7

PMID : 27717313






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Gene analysis in this patient disclosed a heterozygous p.S811F mutation was in Ret gene exon 14, resulting in a substitution of phenylalanine for serine. Serine ret proto-oncogene Homo sapiens