1 Matching Annotations
- Dec 2023
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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de novo variant (c.2738_2739delAT [p.Tyr913∗])
Case: DiseaseAssertion: FamilyInfo: CasePresentingHPOs: CaseHPOFreeText: CaseNOTHPOs: CaseNOTHPOFreeText: CasePreviousTesting: GenotypingMethod: PreviouslyPublished: as applicable SupplementalData: as applicable Variant: ClinVarID: A curator only needs to include either a ClinVarID or CAID, not both. CAID: d gnomAD: VariantEvidence: Only use if applicable
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