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AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.
J Appl Genet. 2020 May;61(2):213-218. doi: 10.1007/s13353-020-00552-w. Epub 2020 Mar 12.
J Appl Genet. 2020.
PMID: 32166732
Free PMC article.
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
Śmigiel R, Biela M, Szmyd K, Błoch M, Szmida E, Skiba P, Walczak A, Gasperowicz P, Kosińska J, Rydzanicz M, Stawiński P, Biernacka A, Zielińska M, Gołębiowski W, Jalowska A, Ohia G, Głowska B, Walas W, Królak-Olejnik B, Krajewski P, Sykut-Cegielska J, Sąsiadek MM, Płoski R.
Śmigiel R, et al.
J Clin Med. 2020 Jul 13;9(7):2220. doi: 10.3390/jcm9072220.
J Clin Med. 2020.
PMID: 32668698
Free PMC article.
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