Associated Papers
Endocrinopathy, dystonia, and tremor in a patient with homozygous MRPL49 mutation.
Salari M et al.
Acta Neurologica Belgica, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB et al.
American Journal of Human Genetics, 2025
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction.
Shao Q et al.
The Journal of Biological Chemistry, 2016
Select a paper to view details