Expanding cohort of individuals with p.V142I homozygous alterations suggests presentation onset similar to heterozygotes

Date:
Tuesday, Mar 22, 2022 12:00am – 12:00pm
Conference:
ACMG 2022
Authors:
Ana Bozas, Andrew Rosen, Jing Zhou, Kunal Bhatt, Meghan Towne, Melissa Holman