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A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation. Click to show full abstract
A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.
Keywords:
mutation implications;
somatic mosaicism;
slc2a1 mutation;
mosaicism slc2a1;
mutation;
implications genetic
Journal Title: Clinical Genetics
Year Published: 2017
Link to full text (if available)
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Journal Title: Clinical Genetics
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!