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Neil Risch

Institute for Human Genetics
H指数:124
被引数:6.7万

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A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved

DEGS1基因的一个新型剪接位点变异导致异常剪接和DEGS1酶活性丧失,该变异为意义不明的变异(VUS)

2026-05-060
OAAI
Sociodemographic modifiers of effects of statin initiation on dementia incidence: An emulated trial design in a large health care member population with 10+years of follow-up

他汀类药物启动对痴呆发病率影响的社会人口学修饰因素:一项在大规模医疗保健参保人群中的模拟试验设计,随访时间超过10年

2025-03-290
OAAI
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation

特应性皮炎的欧洲和多血统全基因组关联荟萃分析突出了全身免疫调节的重要性

2023-10-0426
OAAI
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

双相情感障碍中的外显子组测序将AKAP11鉴定为与精神分裂症共享的风险基因

2022-04-1170
OA
A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts
2021-06-1713
OAAI