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An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants

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Clinical Guidelines and Recommendations J Kleinberger, KA Maloney, TI Pollin, LJB Jeng - Genetics in Medicine, 2016 - nature.com

Chapter : Section1
Journal Year : 2016
Cited by : 100.0

… for correctly diagnosing monogenic diabetes. The criteria set … are causative for the diabetic phenotype or simply coincidental … diabetes variants, assigning accurate variant classifications …..... Read More

Keywords : ["openly available online tool", "sequence variant", "acmgamp standard", "interpretation", "implement", "guideline"]
PubMed Link : https://www.nature.com/articles/gim201613
Google Scholar Link : https://scholar.google.com/scholar?cites=8177874922663680001&as_sdt=8000005&sciodt=0,19&hl=en&num=20