DAO Thr16Met genotypes according to clinical presentation.

Figshare2015-12-02 更新2026-04-29 收录

基因型-表型关联

临床遗传学

数据链接：

https://figshare.com/articles/dataset/_DAO_Thr16Met_genotypes_according_to_clinical_presentation_/214348 数据链接链接失效反馈

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资源简介：

Twelve patients had other symptoms (See Table 1).

创建时间：

2015-12-02

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110

Fabry Disease: AI-Extracted Clinical Dataset from Published Case Reports

罕见病临床数据

基因型-表型关联

General Information Title: Fabry Disease: AI-Extracted Clinical Dataset from Published Case Reports Version: 1.0.0 Date of export: 2026-02-27 Created by: Silene Systems (AI-powered clinical data

Zenodo2026-02-27 更新40

Data_Sheet_2_Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy.PDF

RYR1相关肌病

基因型-表型关联

IntroductionNext generation sequencing results in an explosive identification of rare variants of RYR1, making the correlation between phenotype and genotype complicated. We analyzed the data of 33 pa

NIAID Data Ecosystem20

Additional file 3 of Haplotype variations of sucrose phosphate synthase B gene among sugarcane accessions with different sucrose content

甘蔗综合研究

基因型-表型关联

Additional file 3. Variation sites of single nucleotide polymorphism (SNP) and InDels in the 39 SPSB haplotypes.

Figshare2024-02-07 更新70

Phenotypic and biological profiles of the patients bearing the four new allelic variants.

表型遗传关联

临床遗传学

Phenotypic and biological profiles of the patients bearing the four new allelic variants.

NIAID Data Ecosystem40