Lv1
40 积分 2023-07-27 加入
Hereditary deafness carrier screening in 9,993 Chinese individuals
6个月前
已完结
Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA
6个月前
已完结
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue
8个月前
已完结
Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non‐severe haemophilia A
8个月前
已完结
F9 mRNA splicing aberration due to a deep Intronic structural variation in a patient with moderate hemophilia B
8个月前
已完结
The pathogenicity classification of PAH gene variants in the Iranian population
8个月前
已完结
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia
8个月前
已完结
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants
8个月前
已完结
A Novel Deep Intronic Variant in LAMA2 Identified by RNA Sequencing
8个月前
已完结
Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII
8个月前
已完结
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