Associated Papers
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
38245625 (PubMed )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA et al.
Human Mutation, 2019
Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.
Chin E et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.
Eggermann T
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: F9. Disease: Haemophilia B.
Niazi G et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: SLC7A9. Disease: Cystinuria.
Eggermann T
Human Genetics, 2009
Select a paper to view details