官方服务：
资源简介：
The TTN p.Tyr4418Ter mutation causes cardiomyopathy in mice
应用场景：
创建时间：
2024-02-01
相关数据集
Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
We observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify
NIAID Data Ecosystem80
Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features
Pathogenic sequence variant in the GNAI1 gene were recently introduced as a cause of novel syndrome with a manifestation of variable developmental delay and autistic features. We report on a case of m
NIAID Data Ecosystem60
GRCh37 Mutation Rates - popEVE annotated
GRCh37 mutation rates from Samocha et al 2014 annotated with popEVE model scores. To be used with popEVE's gene collapsing.
Zenodo2026-04-15 更新30
Additional file 14 of Accuracy of a machine learning method based on structural and locational information from AlphaFold2 for predicting the pathogenicity of TARDBP and FUS gene variants in ALS
Additional file 14: Table S14. Comparison of three machine learning methods.
DataCite Commons2024-08-14 更新70
Escherichia vulneris NBRC 102420 genome sequencing project. Pseudescherichia vulneris NBRC 102420
Development of methods to distinguish pathogenic bacteria and non-pathogenic bacteria.
NIAID Data Ecosystem40
