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
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
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