Lv31
278 积分 2024-02-20 加入
Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1
1小时前
待确认
Experimental insights into MMACHC variants using a novel minigene system
1天前
已完结
Identification of the synonymous variant c.3141G > A in TNRC6B gene that altered RNA splicing by minigene assay
16天前
已完结
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
27天前
已完结
Expanding the mutational spectrum of ReNU syndrome: insights into 5’ Stem-loop variants
1个月前
已完结
Reanalysis of whole genome sequencing ends a diagnostic Odyssey of neurodevelopmental disorders caused by RNU4-2 variants
1个月前
已完结
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype
1个月前
已完结
Structural characterization and promoter analysis of human potassium channel Kv8.1 (KCNV1) gene
2个月前
已完结
Evidence for 28 genetic disorders discovered by combining healthcare and research data
2个月前
已完结
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
2个月前
已完结
皖公网安备34019202002308
