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Genotyping data from one patient with unexplained mental retardation and a deletion in 15q13

ChEBI2011-03-05 更新2026-07-21 收录

遗传病研究

智力障碍遗传分析

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-20564 数据链接链接失效反馈

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资源简介：

Genotyping data from one patient with unexplained mental retardation and a deletion in 15q13

应用场景：

创建时间：

2011-03-05

遗传病研究

基因变异分析

B3GALT6 is a well-documented disease-related gene. Several B3GALT6-recessive variants have been reported to cause Ehlers–Danlos syndrome (EDS). To the best of our knowledge, no dominant B3GALT6 varian

frontiersin.figshare.com2023-05-31 更新240

Supplementary Material for: Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report

遗传病研究

医学

Introduction: Central diabetes insipidus (CDI) is a rare disorder caused by a deficiency in the secretion of arginine vasopressin (AVP) from the posterior pituitary. It can be either acq

DataCite Commons2025-05-01 更新60

Demographic characteristics, description of events, medical and family history of gene-positive cases.

遗传病研究

家族健康风险评估

Demographic characteristics, description of events, medical and family history of gene-positive cases.

Figshare2018-04-20 更新30

Supplemental materials CYP17A1 deficiency reference eligibility screening

遗传病研究

医学筛查

Reference eligibility screening following systematic database searches for case reports of CYP17A1 deficiency.

DataCite Commons2025-05-01 更新120

Additional file 1 of Whole genome sequencing for the investigation of canine mammary tumor inheritance - an initial assessment of high-risk breast cancer genes reveal BRCA2 and STK11 variants potentially associated with risk in purebred dogs