RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.

Priya T Bhola Aren Elizabeth Marshall Yijing LiangMadeline CouseXueqi WangElka Miller Chantal F Morel Kym M BoycottKristin D Kernohan

Published in: American journal of medical genetics. Part A (2023)

Keyphrases

single cell