Whole exome-trio analysis reveals rare variants associated with Congenital Pouch Colon
Sonal Gupta, Praveen Mathur, Ashwani Kumar Mishra, Krishna Mohan Medicherla, Prashanth Suravajhala
The paper identifies rare de novo mutations in CPC patients using whole exome sequencing and highlights candidate genes associated with the disorder.
medRxiv · Dec 10, 2019 · PreprintGenetic & Genomic Medicine