A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII

A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII

Kantaputra PN, Angkurawaranon S, Intachai W, Ngamphiw C, Olsen B, Tongsima S, Cox TC, Cairns, JRK

Genes. 2023;14(2):322.