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Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon

Anorectal malformations (ARM) are individually common, but Congenital Pouch Colon (CPC) is a rare anorectal anomaly that causes a dilated pouch and communication with the genitourinary tract. In this work, we attempted to identify de novo heterozygous missense variants, and further discovered varian...

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Principais autores: Sonal Gupta, Praveen Mathur, Ashwani Kumar Mishra, Krishna Mohan Medicherla, Obul Reddy Bandapalli, Prashanth Suravajhala
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2023-05-01
Serier:Children
Fag:
whole exome sequencing
trio exome
missense variants
congenital pouch colon
Online adgang:https://www.mdpi.com/2227-9067/10/5/902
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