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A novel STK11 missense mutation and PJS

NIAID Data Ecosystem2026-03-13 收录

遗传性息肉综合征

基因型-表型关联

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA875614 数据链接链接失效反馈

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资源简介：

A Chinese pedigree with PJS based on the clinical features, gastrointestinal endoscopy, and genetic testing results

应用场景：

创建时间：

2022-09-01

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

Regression models of the relationship between age at onset (Ageo) and the progenitor allele length (ePAL) estimated from two different DNA tissue sources of the same DM1 patient.

生物遗传标记分析

基因型-表型关联

Regression models of the relationship between age at onset (Ageo) and the progenitor allele length (ePAL) estimated from two different DNA tissue sources of the same DM1 patient.

Figshare2019-05-02 更新30

Demographics of study subjects according to FMO3 p.158E>K genetic variant.

遗传流行病学

基因型-表型关联

Demographics of study subjects according to FMO3 p.158E>K genetic variant.

NIAID Data Ecosystem20

Segregation analysis of heterozygous rupo+/- mutant.

突变体分析

基因型-表型关联

Segregation analysis of heterozygous rupo+/- mutant.

Figshare2016-07-26 更新30

Fraction of simulated local heritability explained in WTCCC2 genotypes.

疾病遗传关联分析

基因型-表型关联

Analysis of simulated disease architecture with 180 causal 1Mbp loci yielding a true . In each locus, 1–10 causal variants were sampled from either low-frequency () of common (MAF) WTCCC2 SNPs. For ea

NIAID Data Ecosystem30

A novel STK11 missense mutation and PJS

资源简介：

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