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资源简介：
goats with polled intersex syndrome (PIS) mutation
应用场景：
创建时间：
2020-09-01
相关数据集
Gphn
Enables molybdopterin molybdotransferase activity. Involved in molybdopterin cofactor biosynthetic process and neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upst
rgd.mcw.edu200
A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
Objective: An observational cross-sectional study was conducted in a national facioscapulohumeral muscular dystrophy (FSHD) expertise center to estimate the penetrance of FSHD1 and to evaluate phenoty
DataONE2020-06-24 更新70
Supplementary Material for: Impairment of Renal Function in Hermansky-Pudlak Syndrome
Introduction Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. The genetic types of HPS are associated with a
DataCite Commons2025-05-01 更新60
Data from: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
Objective: An observational cross-sectional study was conducted in a national facioscapulohumeral muscular dystrophy (FSHD) expertise center to estimate the penetrance of FSHD1 and to evaluate phenoty
DataONE2018-08-08 更新80
Comprehensive analysis of non-synonymous missense SNPs of human galactose mutarotase (GALM) gene: an integrated computational approach
Missense Non-synonymous single nucleotide polymorphisms (nsSNPs) of Galactose Mutarotase (GALM) are associated with the Novel type of Galactosemia (Galactosemia type 4) together with symptoms such as
Taylor & Francis Group2023-11-09 更新60
