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1
Fitting a naturally scaled point system to the ACMG/AMP variant ... - PubMed
https://pubmed.ncbi.nlm.nih.gov/32720330/
2
Expansion of the phenotypic spectrum of de novo missense variants in ...
https://pubmed.ncbi.nlm.nih.gov/32652677/
3
Variant Classification | Gene Variant Definition - Ambry Genetics
https://www.ambrygen.com/science/variant-classification
4
Quantifying prediction of pathogenicity for within-codon concordance ...
https://www.sciencedirect.com/science/article/pii/S1098360021053892
5
[PDF] Gene-specific ACMG/AMP classification criteria for germline ...
https://www.research.ed.ac.uk/files/401895848/Gene-specific_ACMG_AMP_classification_criteria_for_germline_APC_variants_recommendations_from_the_ClinGen_InSIGHT_Hereditary_Colorectal_Cancer_Polyposis_Variant_Curation_Expert_Panel_final.pdf
6
Specifications of the ACMG/AMP Variant Classification Guidelines for ...
https://pmc.ncbi.nlm.nih.gov/articles/PMC10713350/
7
NGS detection of gene rearrangements and METexon14 ...
https://www.journalofliquidbiopsy.com/article/S2950-1954(24)00008-0/fulltext
8
Evidence-based recommendations for gene-specific ACMG/AMP variant ...
https://ngdc.cncb.ac.cn/openlb/publication/OLB-PM-39142283