Article

Application of Whole Exome-trio Analysis Reveals Rare Variants Associated With Congenital Pouch Colon

2022-01-13

Abstract excerpt

Anorectal malformations (ARMs) are individually common, but congenital pouch colon (CPC), a rare anorectal anomaly, causes a dilated pouch in the genitourinary tract. In this work, we attempted to identify de novo heterozygous missense variants and further discovered variants of unknown significance (VUS), which could provide insights into CPC manifestation and its etiology. From whole exome sequencing (WES) perfo...

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Literature Corpus work: 3f56f39a-5994-54ee-8d93-a8933b2da952
DOI: 10.21203/rs.3.rs-1235311/v1

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