Article

Whole exome-trio analysis reveals rare variants associated with Congenital Pouch Colon

2019-12-14

Abstract excerpt

Anorectal malformations (ARM) are individually common but Congenital Pouch Colon (CPC), a rare anorectal anomaly causes a dilated pouch in genitourinary tract. We have earlier attempted to understand the clinical genetic makeup of CPC and identified genes responsible for the disease using whole exome sequencing (WES). Here we report our studies of CPC, by identifying de novo heterozygous missense mutations in 16 p...

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Literature Corpus work: e68d5751-2042-5501-ac03-bf94e996586a
DOI: 10.1101/2019.12.10.19013680

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