Functional and clinical implications of genetic structure in 1686 Italian exomes
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24156
Abstract: To reconstruct the phenotypical and clinical implications of the Italian genetic structure, we thoroughly analyzed a whole‐exome sequencing data set comprised of 1686 healthy Italian individuals. We found six previously unreported variants with remarkable frequency… read more here.
Keywords: genetic structure; clinical implications; functional clinical; data set ... See more keywords
Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome
Sign Up to like & getrecommendations! 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. read more here.
Keywords: mutation implications; somatic mosaicism; slc2a1 mutation; mosaicism slc2a1 ... See more keywords