NPC
收藏国家生物信息中心2025-10-11 更新2025-03-15 收录
下载链接：
http://npc.fzk.de
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资源简介：
We have created the NPC disease gene variation database (NPC-db; http://npc.fzk.de; last accessed 24 October 2007). This database aims to provide a comprehensive overview of the sequence variants in NPC1 and NPC2, including information on their functional consequences and associated haplotypes. Moreover, genotype data and clinical information from individual NPC patients provide information on the impact of functional variants. NPC-db addresses professionals and nonprofessionals dealing with NPC disease on a clinical, diagnostic, research, or personal basis. The user is encouraged to search contents and submit novel information, thereby contributing to generate a valuable open-access tool that will allow a better understanding of the molecular and clinical details of NPC disease.
提供机构：
University of Heidelberg
创建时间：
2018-01-27
