遇见数据集

NPC1/2 variant frequencies by groupa.

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Figshare2015-12-02 更新2026-04-29 收录
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PD = Parkinson's disease; FTLD = frontotemporal lobar degeneration;PSP = progressive supranuclear palsy.a Absolute number of variant carriers, percentage of carriers within the group, p values.b Variants previously described as disease-causing in a NPC patient.c All rare (MAFNPC1 and NPC2 (synonymous changes omitted).

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2015-12-02
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