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ACMG on X: "ACMG publishes new ACMG Therapeutics Bulletin: “Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA)” in GIM Open, the College's gold open access journal: https://t.co/43F9LEoG1S #
GitHub - WGLab/InterVar: A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
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Frontiers | Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency
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ACMG - American College of Medical Genetics and Genomics on LinkedIn: #therapeutics #raredisease #medicalgenetics #gimopen #frda #friedreich…
![Genes | Free Full-Text | MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations Genes | Free Full-Text | MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations](https://pub.mdpi-res.com/genes/genes-14-01600/article_deploy/html/images/genes-14-01600-g001.png?1691474300)
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GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
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Genes | Free Full-Text | Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting
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GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss | PLOS Computational Biology
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