Article

Prediction of Four Novel SNPs V17M, R11H, A66T, and F57S in the <i>SBDS</i> Gene Possibly Associated with Formation of Shwachman-Diamond Syndrome, using an Insilico Approach

2019-02-06

Abstract excerpt

Shwachman-Diamond syndrome SDS (MIM 260400) is an autosomal recessive disorder. Characterized by exocrine insufficiency of the pancreas, bone marrow hypoplasia resulting in cytopenias, especially neutropenia, variable degree of skeletal abnormalities, failure to thrive, and increasing risk of developing myelodysplasia or transformation to leukemia. SDS is mainly caused by Shwachman Bodian Diamond Syndrome gene (MI...

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Literature Corpus work: 7c33ec98-9319-599d-9288-5843201ee10a
DOI: 10.1101/542654

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