Article

Clinical features of UK Biobank subjects carrying protein truncating variants in genes implicated in schizophrenia pathogenesis

2021-12-07

Abstract excerpt

The SCHEMA consortium has identified ten genes in which protein truncating variants (PTVs) confer substantial risk of schizophrenia. Exome-sequenced participants in the UK Biobank who carried PTVs in these genes were studied to determine to what extent they demonstrated features of schizophrenia or had neuropsychiatric impairment. Following automated quality control and visual inspection of reads, 251 subjects wer...

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Literature Corpus work: 98456e0f-426d-5b68-bc51-277b1e1c1e4d
DOI: 10.1101/2021.12.07.21267402

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