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Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12902
Abstract: A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.
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Keywords:
mutation implications;
somatic mosaicism;
slc2a1 mutation;
mosaicism slc2a1 ... See more keywords