Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome
Article in Frontiers in Genetics (August 2022)
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Article in Frontiers in Genetics (August 2022)
Article in Molecular Cytogenetics (November 2021)
Article in Global Journal For Research Analysis (August 2020)