Associated Papers
SIGMAR1 gene-related neuromuscular disorders - what do we know?
Kalita M et al.
Neurologia I Neurochirurgia Polska, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Previtali SC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
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