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Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia.

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Title: Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia.
Authors: Darvish, Hossein, Azcona, Luis J., Tafakhori, Abbas, Ahmadi, Mona, Ahmadifard, Azadeh, Paisán-Ruiz, Coro
Source: NPJ genomic medicine 12/1/2017; Vol. 2 (1).
Journal Info: Publisher: Springer Nature ISSN: 2056-7944
Database: MEDLINE Ultimate
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  Data: Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia.
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        Value: 10.1038/s41525-017-0022-7
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              Text: 12/1/2017
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