ena-DATASET-CNG-07-01-2014-14:01:01:919-295 - samples

NIAID Data Ecosystem2026-03-11 收录

基因组学样本

遗传疾病研究

数据链接：

https://www.omicsdi.org/dataset/ega/EGAD00001000709 数据链接链接失效反馈

官方服务：

资源简介：

Dataset of CageKid Blood DNA samplesEGA dataset EGAD00001000709

创建时间：

2020-05-12

Data from: A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease

遗传疾病研究

基因突变分析

A type of lower motor neuron (LMN) disease inherited as autosomal recessive in Romney sheep was characterized with normal appearance at birth, but with progressive weakness and tetraparesis after th

DataCite Commons2025-05-01 更新70

Table S1: Taxonomic sampling

鱼类系统分类

基因组学样本

Taxonomic sampling of newly sequenced data for Carangaria.

Figshare2023-12-13 更新40

PROCEEDİNGS OF THE FIRST INTERNATIONAL SCIENTIFIC PRACTICAL VIRTUAL CONFERENCE HUMAN GENETICS AND GENETIC DISEASES: PROBLEMS AND DEVELOPMENT PERSPECTIVES

人类遗传学

遗传疾病研究

PROCEEDİNGS OF THE FIRST INTERNATIONAL SCIENTIFIC PRACTICAL VIRTUAL CONFERENCE HUMAN GENETICS AND GENETIC DISEASES: PROBLEMS AND DEVELOPMENT PERSPECTIVES

NIAID Data Ecosystem30

Table_Nephropathies_Lifetime risk_Raw data included variants.xlsx

遗传疾病研究

生物信息学

Raw data to the paper " Lifetime risk of autosomal recessive kidney diseases calculated from genetic databases". All (likely) pathogenic included variants, their allele frequencies as listed in our in

DataCite Commons2025-06-01 更新70

Clinical features and gene identification results of the probands and their first relatives.

遗传疾病研究

基因型-表型关联

Clinical features and gene identification results of the probands and their first relatives.

NIAID Data Ecosystem30