Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
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Roos A, et al. Among authors: daya n.
Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152.
Brain. 2023.
PMID: 37163662
Free PMC article.