Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases
Summary: Although standards and guidelines for the interpretation of variants identified in genes that cause Mendelian disorders have been developed, this is not the case for more complex genetic models including variant combinations in multiple genes. During a large curation process conducted on 31...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | HGG Advances |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666247722000823 |