Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
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Title
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
Authors
Keywords
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Journal
HUMAN MUTATION
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2018-09-07
DOI
10.1002/humu.23626
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Note: Only part of the references are listed.- Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
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- (2017) Steven M. Harrison et al. GENETICS IN MEDICINE
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- Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
- (2016) Laura M. Amendola et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2016) Monkol Lek et al. NATURE
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- Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
- (2015) Nuala A. O'Leary et al. NUCLEIC ACIDS RESEARCH
- Effect of predicted protein-truncating genetic variants on the human transcriptome
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- (2012) S. Lee et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2010) G. A. Bazykin et al. NUCLEIC ACIDS RESEARCH
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