Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
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medRxiv [Preprint]. 2024 Sep 24:2024.09.23.24313872. doi: 10.1101/2024.09.23.24313872.
medRxiv. 2024.
PMID: 39371122
Free PMC article.
Preprint.