A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
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European journal of human genetics - ISSN 1018-4813- (2025) p.
Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy
Source
The journal of physiology - ISSN 0022-3751-603:17 (2025) p. 4907-4910
Genetic insights in hereditary neurological and neuromuscular disorders : spectrins bridge neurons to muscles
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Antwerp, University of Antwerp, Faculty of Medicine and Health Sciences, 2025,201 p.
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy
Source
Genetics in medicine - ISSN 1098-3600-27:6 (2025) p. 1-13
TBP repeat expansion analysis in patients carrying heterozygous STUB1 variants
Source
Movement disorders: video, videotape supplements - ISSN 0885-3185- (2025) p.