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Clinical and audiological data of patients with biallelic GJB2 genotypes.

Figshare2024-10-22 更新2026-04-28 收录

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https://figshare.com/articles/dataset/Clinical_and_audiological_data_of_patients_with_biallelic_i_GJB2_i_genotypes_/27279442 数据链接链接失效反馈

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Clinical and audiological data of patients with biallelic GJB2 genotypes.

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创建时间：

2024-10-22

基因型-表型关联

遗传学

Background: The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondroste

DataCite Commons2020-09-03 更新80

Genetic terms significantly associated with variation in immunological parameters.

免疫遗传学

基因型-表型关联

aUnder an additive model, listed haplotypes were compared against the most common haplotype at that locus; under a heterozygosity model, values of heterozygotes were compared against homozygotes (see

Figshare2015-12-02 更新10

synthetic CueR metal binding domain in Escherichia coli raw sequence reads

金属结合域功能表征

基因型-表型关联

We applied sort-seq to characterize the genotype-phenotype association of the CueR metal binding domain

NIAID Data Ecosystem10

Table_1_Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.XLSX

遗传性神经病变

基因型-表型关联

Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a memb

NIAID Data Ecosystem40

Table_1_Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2.xlsx

遗传病基因诊断

基因型-表型关联

Kleefstra syndrome (KLEFS) refers to a rare inherited neurodevelopmental disorder characterized by intellectual disability (ID), language and motor delays, behavioral abnormalities, abnormal facial ap

NIAID Data Ecosystem10

Clinical and audiological data of patients with biallelic GJB2 genotypes.

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