| 0 | ℹ |
In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.
(academic.oup.com)
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Human Molecular Genetics 2026-08-25 | #schizophrenia #synaptic #neuropsychiatric #variants #behavior | |
| 0 | ℹ |
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
(linkinghub.elsevier.com)
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American Journal of Human Genetics 2026-08-25 | #transcriptomics #sequencing #variants #isoforms #mendelian |