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Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
Author(s) -
Thuresson AnnCharlotte,
Soussi Zander Cecilia,
Zhao Jin J.,
Halvardson Jonatan,
Maqbool Khurram,
Månsson Else,
Stenninger Eric,
Holmlund Ulrika,
Öhrner Ylva,
Feuk Lars
Publication year - 2019
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13470
Subject(s) - genetics , proband , exome sequencing , sanger sequencing , biology , missense mutation , exome , gene , copy number variation , whole genome sequencing , dna sequencing , phenotype , genome , mutation
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