Updated recommendation for the benign stand‐alone ACMG/AMP criterion
The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation Working Group set out to refine the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists (ACMG/AMP) variant pathogenicity recommendations for stand-alone rule BA1 (a variant with minor a...
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| Main Authors: | , , , , |
|---|---|
| Format: | Artigo |
| Language: | English |
| Published: |
2018
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| Online Access: | https://doi.org/10.1002/humu.23642 |
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