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List of works by Charles J Shaw-Smith

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

scientific article published on 12 August 2015

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

scientific article published on December 2015

GATA6 haploinsufficiency causes pancreatic agenesis in humans

scientific article

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

scientific article published on 09 June 2016

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

scientific article

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