FAIRsharing record for: CHD7 Database
收藏DataCite Commons2024-12-05 更新2025-04-15 收录
下载链接：
https://fairsharing.org/10.25504/FAIRsharing.2c8e7e
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资源简介：
This FAIRsharing record describes: The CHD7 database contains locus-specific, anonymised mutation data on both published and unpublished variants of the CHD7 gene related to the CHARGE syndrome phenotype. It can be searched for patients and their clinical phenotype or for mutations. It can be used as a central, quick reference database for anyone who encounters a variant in the CHD7 gene. Mutations are numbered according to the current reference sequence (GenBank Accession no. NM017780.2).
提供机构：
FAIRsharing
创建时间：
2023-06-28
