Lv4
528 积分 2024-07-11 加入
The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia
6天前
已关闭
A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes
26天前
已完结
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
1个月前
已完结
Pseudo-Dystonia and Marked Intrafamilial Variability in CADM3-Related Disease
1个月前
已完结
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
1个月前
已完结
2023 ESC Guidelines for the management of cardiomyopathies
1个月前
已完结
Pathogenicity analysis of ATP7B in pediatric patients with Wilson’s disease and functional verification of alternative splice variants
2个月前
已完结
BiallelicPKP2loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects
2个月前
已完结
[Analysis of PKD2 gene variant and protein localization in a pedigree affected with polycystic kidney disease]
3个月前
已完结
De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia
4个月前
已完结
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