| Autor: |
Laurene, Ben Aim, Eamonn R, Maher, Alberto, Cascon, Anne, Barlier, Sophie, Giraud, Tonino, Ercolino, Pascal, Pigny, Roderick J, Clifton-Bligh, Delphine, Mirebeau-Prunier, Amira, Mohamed, Judith, Favier, Anne-Paule, Gimenez-Roqueplo, Francesca, Schiavi, Rodrigo A, Toledo, Patricia L, Dahia, Mercedes, Robledo, Jean Pierre, Bayley, Nelly, Burnichon |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Journal of medical genetics. 59(8) |
| ISSN: |
1468-6244 |
| Popis: |
A total of 223 distinctThis multistep process resulted in 23 benign/likely benign, 149 pathogenic/likely pathogenic variants and 51 variants of unknown significance (VUS). Expert curation reduced by half the number of variants initially classified as VUS. Variant classifications are publicly accessible via the Leiden Open Variation Database system (https://databases.lovd.nl/shared/genes/SDHB).This international initiative by a panel of experts allowed us to establish a consensus classification for 223 |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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