官方服务：
资源简介：
To reveal a new pathogenic gene for BRA family
应用场景：
创建时间：
2021-12-31
相关数据集
DataSheet1_Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.PDF
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
Demographic characteristics, description of events, medical and family history of gene-positive cases.
Demographic characteristics, description of events, medical and family history of gene-positive cases.
Figshare2018-04-20 更新30
Variants detected by whole genome re-sequencing of an affected Labrador Retriever.
aThe sequences were compared to the reference genome (CanFam 3) from a Boxer. Only variants that were homozygous in the affected Labrador Retriever are reported.
NIAID Data Ecosystem20
Supplemental materials CYP17A1 deficiency reference eligibility screening
Reference eligibility screening following systematic database searches for case reports of CYP17A1 deficiency.
DataCite Commons2025-05-01 更新120
Pedigree analysis in three dogs diagnosed with PRA and they average relatedness with breed population.
Pedigree analysis in three dogs diagnosed with PRA and they average relatedness with breed population.
NIAID Data Ecosystem20
