whole exome sequencing of a Joubert syndrome proband - Project - Data resources

CNP0002094

whole exome sequencing of a Joubert syndrome proband
Source: CNGBdb Project (ID CNP0002094)

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Project name: novel AHI1 compound pathogenic variants related to Joubert syndrome

Description: Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new variant in the AHI1 gene with mild JS.

Data type: Raw sequence reads; Genome sequencing; Exome

Sample scope: Monoisolate

Relevance: Medical

Submitter: 都爱莲; 上海交通大学医学院附属同仁医院

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