Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature
| Autor: | Mohan, Shruthi, Mayers, Megan, Weaver, Meredith, Baudet, Heather, De Biase, Irene, Goldstein, Jennifer, Mao, Rong, McGlaughon, Jennifer, Moser, Ann, Pujol, Aurora, Suchy, Sharon, Yuzyuk, Tatiana, Braverman, Nancy E. |
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| Zdroj: | In Molecular Genetics and Metabolism July 2023 139(3) |
| Databáze: | ScienceDirect |
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