共 50 条
- [43] Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (10):
- [48] Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor SCIENTIFIC REPORTS, 2024, 14 (01):