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MODY gene variants present in at least 10% of the cohort.

NIAID Data Ecosystem2026-03-13 收录

MODY基因变异

单基因糖尿病

数据链接：

https://figshare.com/articles/dataset/MODY_gene_variants_present_in_at_least_10_of_the_cohort_/20274600 数据链接链接失效反馈

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资源简介：

MODY gene variants present in at least 10% of the cohort.

应用场景：

创建时间：

2022-07-08

单基因糖尿病

蛋白质组学分析

Studies of monogenic diabetes are particularly useful as we can gain insight into the molecular events of pancreatic β-cell failure. Maturity-onset diabetes of the young 1 (MODY1) is a monogenic diabe

NIAID Data Ecosystem80

DataSheet_1_Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy.pdf

单基因糖尿病

DNAJC3突变表型

IntroductionDNAJC3, abundant in the pancreatic cells, attenuates endoplasmic reticulum stress. Homozygous DNAJC3 mutations have been reported to cause non-immune juvenile-onset diabetes, neurodegenera

NIAID Data Ecosystem50

whole exon sequencing for monogenic diabetes

单基因糖尿病

外显子测序

Aim to detect monogenic diabetes from patients who were onset diabetes before 25-years old, we start the monogenic diabetes registry program in China.

NIAID Data Ecosystem30

mellitus_samples_REL-2015-04 - samples

表观遗传学

单基因糖尿病

HipSci - Monogenic Diabetes - Methylation Array - April 2015EGA dataset EGAD00010000817

NIAID Data Ecosystem50

Table_1_Case Report: A Novel ABCC8 Variant in a Chinese Pedigree of Maturity-Onset Diabetes of the Young.xlsx

单基因糖尿病

ABCC8基因变异

BackgroundWe aimed to analyze a novel ABCC8 variant of a Chinese patient with suspected maturity-onset diabetes of the young (MODY) and to provide evidence for precise diagnosis and appropriate treatm

NIAID Data Ecosystem50

MODY gene variants present in at least 10% of the cohort.

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