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Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Genes (Basel). 2022 Jul 23;13(8):1314. doi: 10.3390/genes13081314.
Genes (Basel). 2022.
PMID: 35893049
Free PMC article.
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
Taha I, Foroni S, Valli R, Frattini A, Roccia P, Porta G, Zecca M, Bergami E, Cipolli M, Pasquali F, Danesino C, Scotti C, Minelli A.
Taha I, et al. Among authors: foroni s.
Front Genet. 2022 Aug 12;13:896749. doi: 10.3389/fgene.2022.896749. eCollection 2022.
Front Genet. 2022.
PMID: 36035165
Free PMC article.
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