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Additional file 1 of Galactose epimerase deficiency: lessons from the GalNet registry

NIAID Data Ecosystem2026-03-13 收录

数据链接：

https://figshare.com/articles/dataset/Additional_file_1_of_Galactose_epimerase_deficiency_lessons_from_the_GalNet_registry/20861184 数据链接链接失效反馈

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Additional file 1. Detailed overview of genotype and phenotype per patient.

应用场景：

创建时间：

2022-09-02

Brugada综合征

基因型-表型关联

Dataset from Ciconte G, Monasky MM, Santinelli V, Micaglio E, Vicedomini G, Anastasia L, Negro G, Borrelli V, Giannelli L, Santini F, de Innocentiis C, Rondine R, Locati ET, Bernardini A, Mazza BC, Me

NIAID Data Ecosystem50

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

Supplementary Material for: Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review

神经系统遗传疾病

基因型-表型关联

Introduction: Homozygous and compound heterozygous variants in GJC2, the gene encoding connexin-47 protein, cause Pelizaeus-Merzbacher-like disease type 1 or hypomyelinating leukodystrophy 2 (HLD2), a

Figshare2023-03-30 更新10

Altered germination properties of Bacillus subtilis 168 strains

孢子萌发

基因型-表型关联

Spores produced by different wild-type Bacillus subtilis 168 strains show different germination properties in response to some germinants. The goal of the project was to associate observed phenotype w

NIAID Data Ecosystem40

Additional file 1 of Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital

丙酸血症

基因型-表型关联

Additional file 1. An Excel sheet (.xls) named “Detailed data of every patient” describes the detailed information on biallelic variants and corresponding clinical characteristics of every patient wit

Figshare2022-03-24 更新30

Additional file 1 of Galactose epimerase deficiency: lessons from the GalNet registry

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