Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
Authors
Megan S. Piazza (ORCID: https://orcid.org/0000-0002-1062-7144)
Britt A. Johnson (ORCID: https://orcid.org/0000-0003-1883-5201)
Michael Steven Hershfield (ORCID: https://orcid.org/0000-0003-3589-8554)
Shiloh Martin (ORCID: https://orcid.org/0009-0002-6653-2707)
Ivan Kingyue Chinn (ORCID: https://orcid.org/0000-0001-5684-5457)
Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
Megan S. Piazza, Britt A. Johnson, Michael Steven Hershfield, Shiloh Martin et al.
Journal
medRxiv
Topics
Genomics and Rare Diseases
preprint
Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
Megan S. Piazza, Britt A. Johnson, Michael Steven Hershfield, Shiloh Martin, Ivan Kingyue Chinn, Alejandro Nieto-Patlán, Jennifer M. Puck, James W. Verbsky, Brian Hon‐Yin Chung, Luigi Daniele Notarangelo, Rajarshi Ghosh, Eric J. Allenspach, Morton Jerome Cowan, Vanessa Cristina Jacovas, Nicolai S. C. van Oers, Shannon M. McNulty, Katharina Schulze, Alice Y. K. Chan, Bo Yuan, Svetlana Vakkilainen, Xi Luo, Theru A. Sivakumaran, Jolan Walter, Yasemin Demirkol
preprint en
Abstract
No abstract available for this paper.
Publication Tag
medRxiv
Institutions
University of North Carolina at Chapel Hill (US), Children's Hospital of Wisconsin (US), Cincinnati Children's Hospital Medical Center (US), National Institutes of Health (US), University of Helsinki (FI), Duke University (US), University of California, San Francisco (US), Helsinki University Hospital (FI), LabCorp (United States) (US), Johns Hopkins All Children's Hospital (US), Exact Sciences (United States) (US), Seattle Children's Hospital (US), University of California San Francisco Medical Center (US), Duke Medical Center (US), National Institute of Allergy and Infectious Diseases (US), UCSF Benioff Children's Hospital (US), Texas Children's Hospital (US), New York Genome Center (US), Baylor Genetics (US), The University of Texas Southwestern Medical Center (US), University of Hong Kong (HK)