Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
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Thomas HB, et al. Among authors: jamieson p.
medRxiv [Preprint]. 2024 Oct 11:2024.10.10.24315152. doi: 10.1101/2024.10.10.24315152.
medRxiv. 2024.
PMID: 39417135
Free PMC article.
Preprint.