P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1

Slični predmeti

• P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1
  od: Shruthi Mohan, i dr.
  Izdano: (2024-01-01)
• P673: Batch ClinVar submission support in ClinGen’s Variant Curation Interface (VCI)
  od: Matthew Wright, i dr.
  Izdano: (2023-01-01)
• ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
  od: Xi Luo, i dr.
  Izdano: (2019-10-01)
• P220: The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar
  od: Christine Preston, i dr.
  Izdano: (2025-01-01)
• Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
  od: Emma H. Wilcox, i dr.
  Izdano: (2025-01-01)