This FAIRsharing record describes: Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated d

DataCite Commons2024-12-05 更新40

The rates of GJB2 and del (GJB6- D13S1830) mutations in Belarus SNHL patient cohort.

遗传性耳聋

疾病队列遗传分析

*Degree of HL: mod – moderate; s – severe, pr – profound, x - no audiological data.

NIAID Data Ecosystem30

Table_1_Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome.pdf

遗传性免疫缺陷

表型-基因关联

Jacobsen syndrome is a rare genetic disorder associated with a terminal deletion in chromosome 11. The clinical presentation is variable. Although immunodeficiency has been described in patients with

NIAID Data Ecosystem40

Species used.

表型-基因关联

跨物种基因比较

Different species used for inferring gene-phenotype associations in the proposed methods Katz and Catapult, and sizes of the gene-phenotype networks for the species, restricted to orthologs of human g

Figshare2015-12-02 更新30

DFNB21 <i>TECTA</i> mutations and the associated phenotypes.

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