P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysis

Saved in:

Bibliographic Details
Main Authors:	Erica Schindewolf, Gonench Kilich, Kathleen Sullivan, Rebecca Ganetzky, Kelly Hassey, Kelly Mauer, Christopher Breen, Tanaya Jadhav, Adeline Vanderver, Cara Skraban, Ramakrishnan Rajagopalan
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774425013895
Tags:	Add Tag No Tags, Be the first to tag this record!

Internet