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Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2190, doi. 10.1002/ajmg.a.62219
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- Article