WP5406 - 13q12.12 copy number variation - Homo sapiens
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Copy number variations in the region 13q12.12 (exact position: chr13:23555358-24884622 (GRCh37), numbers from Kirov et al. 2014 10.1016/j.biopsych.2013.07.022 and literature cited there) are rare, pathological mutations in the human genome. It is a risk variation for neuropsychiatric diseases like schizophrenia (Kirov et al. 2014, 10.1016/j.biopsych.2013.07.022) and with the presence of SACS it harbors a gene known for causing Spastic ataxia (MIM # 270550).
创建时间：
2025-04-17
