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A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism
Author(s) -
Tejada MaríaIsabel,
Elcoroaristizabal Xabier,
Ibarluzea Nekane,
Botella MaríaPilar,
de la Hoz AnaBelén,
Ocio Intzane
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.13466
Subject(s) - nonsense , autism , genetics , intellectual disability , monozygotic twin , gene , nonsense mutation , nonsense mediated decay , biology , psychology , developmental psychology , mutation , missense mutation , rna , rna splicing