Articles with "g6pc3 gene" as a keyword



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A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia

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Published in 2020 at "Indian Pediatrics"

DOI: 10.1007/s13312-020-1861-3

Abstract: A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia TORCH titres were normal. Chromosomal breakage studies and stool for fat globules were negative. Ultrasound was not suggestive of pancreatic fibrosis or renal anomaly.… read more here.

Keywords: g6pc3 gene; novel mutation; gene associated; congenital neutropenia ... See more keywords