synthetic CueR metal binding domain in Escherichia coli raw sequence reads

NIAID Data Ecosystem2026-04-25 收录

金属结合域功能表征

基因型-表型关联

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP216882 数据链接链接失效反馈

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资源简介：

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

创建时间：

2020-06-19

Supplementary Material for: Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

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

A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome

遗传性出血疾病

基因型-表型关联

Gray platelet syndrome (GPS) is a rare, inherited bleeding disorder characterized by the defect of platelet α-granule. Up to date, these are only four studies identifying NBEAL2 gene correlated with G

Figshare2018-04-16 更新10

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

Clinical and audiological data of patients with biallelic GJB2 genotypes.

遗传性耳聋

基因型-表型关联

Clinical and audiological data of patients with biallelic GJB2 genotypes.

Figshare2024-10-22 更新10