uk10k_rare_hyperchol_rel_2013_04_20-sc-20130522 - samples

NIAID Data Ecosystem2026-03-12 收录

罕见病分子遗传学

高胆固醇血症基因组学

数据链接：

https://www.omicsdi.org/dataset/ega/EGAD00001000417 数据链接链接失效反馈

官方服务：

资源简介：

UK10K_RARE_HYPERCHOL REL-2013-04-20EGA dataset EGAD00001000417

创建时间：

2021-04-23

Data_Sheet_1_A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature.PDF

罕见病分子遗传学

AIRE基因突变分析

Autoimmune-poly-endocrinopathy-candidiasis–ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. Criteria for the d

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Additional file 1 of Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study

罕见病分子遗传学

儿童神经发育障碍

Additional file 1: Table S1. A table detailing the clinical signs and genomic defects.

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Familial exome sequencing in rare pediatric phenotypes

罕见病分子遗传学

儿科外显子组测序

To discover novel candidate genes associated with rare Mendelian phenotypes, we will conduct individual genomic and phenotypic characterization using genome-wide array, pedigree exome sequencing, cand

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RAI1 variants in SMS patients without 17p11.2 deletion identified in the current study.

罕见病分子遗传学

基因变异分析

NA: DNA was not available.aThis case was classified as ‘de novo’ due to pathogenicity of the nonsense mutation, note that parental DNA could not be analyzed.bOnly sequence around c.707A>T available, p

Figshare2015-12-02 更新30

Homo sapiens Genome sequencing and assembly. Homo sapiens

基因组测序

罕见病分子遗传学

A uncommon case report.

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