p.Glu225Lys
CaseF4:II-1: Male, Italy
CasePresentingHPOs: N/A
CaseAddInfo: Proband for F4
2 Matching Annotations
- Last 7 days
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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p.Gly251Arg
CaseF5:II-2: Male, Italy
CasePresentingHPOs: HP:0001631, HP:0001634 (Atrial septal defect, Mitral valve prolapse)
CaseAddInfo: Proband for F5, 2 other family members share MVP and 5 share ASD
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