FAIRsharing record for: AIP Mutation Database

This FAIRsharing record describes: The AIP Mutation Database collects variants (both pathogenic, non-pathogenic and with unknown significance) related to pituitary adenoma predisposition (PAP) and to familial isolated pituitary adenoma (FIPA) syndromes and their clinical information in order to understand better the molecular and clinical details of the disease. Variants are reported according to the GRCh37/hg19 assembly of the human genome and the reference sequence used is the AIP Locus Reference Genomic.

本FAIRsharing记录所描述的内容为：AIP突变数据库（AIP Mutation Database）收集与垂体腺瘤易感综合征（pituitary adenoma predisposition，PAP）、家族孤立性垂体腺瘤综合征（familial isolated pituitary adenoma，FIPA）相关的变异（涵盖致病性、非致病性及意义未明三类）及其对应的临床信息，旨在更深入地阐明该疾病的分子与临床特征。该数据库内的变异标注均基于人类基因组GRCh37/hg19组装版本，所用参考序列为AIP基因座参考基因组（AIP Locus Reference Genomic）。