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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Live births following Karyomapping of human blastocysts: experience from clinical application of the method
    2
    1. ClingenBaseline 21 Oct 2026
      The clinical application of a new, widely applicable method known as Karyomapping to carry out a total of 55 clinical cases of preimplantation genetic diagnosis (PGD) for single gene disorders is reported.

      Unable to annotate on article.

      Case#: Konstantinidis Case 2

      DiseaseAssertion: optic atrophy

      FamilyInfo: none provided

      CasePresentingHPOs: none, tests performed on blastocyst

      CaseHPOFreeText:

      CaseNotHPOs: none

      CaseNotHPOFreeText:

      PreviouslyPublished: n/a

      Variant: c.182A > G

      ClinVar: 511815

      CAID: CA2758946

      SupplementalData: n/a

      CaseInfo Individual InsufficientEvidence Variant:182A>G CAID:CA2758946 inferred_gene_hgnc:8140 inferred_gene_source:CAID UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      The clinical application of a new, widely applicable method known as Karyomapping to carry out a total of 55 clinical cases of preimplantation genetic diagnosis (PGD) for single gene disorders is reported.

      Unable to annotate on article.

      Case#: Konstantinidis Case 2

      DiseaseAssertion: optic atrophy

      FamilyInfo: none provided

      CasePresentingHPOs: none, tests performed on blastocyst

      CaseHPOFreeText:

      CaseNotHPOs: none

      CaseNotHPOFreeText:

      PreviouslyPublished: n/a

      Variant: c.182A > G

      ClinVar: 511815

      CAID: CA2758946

      SupplementalData: n/a

      CaseInfo Individual InsufficientEvidence Variant:182A>G CAID:CA2758946 inferred_gene_hgnc:8140 inferred_gene_source:CAID UNC Biocuration Core
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    pubmed.ncbi.nlm.nih.gov/26206283/