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

Lignende værker

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