P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424000438 |
| _version_ | 1797267582162567168 |
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| author | Shruthi Mohan Irene De Biase Tatiana Yuzyuk Alexa Dickson Tiziano Pramparo Stephanie Francis Meredith Weaver Raquel Fernandez Sharon Suchy Ann Moser Rong Mao Nancy Braverman |
| author_facet | Shruthi Mohan Irene De Biase Tatiana Yuzyuk Alexa Dickson Tiziano Pramparo Stephanie Francis Meredith Weaver Raquel Fernandez Sharon Suchy Ann Moser Rong Mao Nancy Braverman |
| author_sort | Shruthi Mohan |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:18:52Z |
| format | Article |
| id | doaj.art-29c5f248d0a443ed8f4d1788a413a4e2 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:18:52Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-29c5f248d0a443ed8f4d1788a413a4e22024-03-09T09:30:02ZengElsevierGenetics in Medicine Open2949-77442024-01-012100897P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1Shruthi Mohan0Irene De Biase1Tatiana Yuzyuk2Alexa Dickson3Tiziano Pramparo4Stephanie Francis5Meredith Weaver6Raquel Fernandez7Sharon Suchy8Ann Moser9Rong Mao10Nancy Braverman11University of North CarolinaARUP LaboratoriesARUP LaboratoriesWashington University in St. LouisTravere TherapeuticsARUP LaboratoriesAmerican College of Medical Genetics and GenomicsAmerican College of Medical Genetics and GenomicsGeneDxKennedy Krieger InstituteARUP LaboratoriesResearch Institute of the McGill University Health Centerhttp://www.sciencedirect.com/science/article/pii/S2949774424000438 |
| spellingShingle | Shruthi Mohan Irene De Biase Tatiana Yuzyuk Alexa Dickson Tiziano Pramparo Stephanie Francis Meredith Weaver Raquel Fernandez Sharon Suchy Ann Moser Rong Mao Nancy Braverman P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1 Genetics in Medicine Open |
| title | P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1 |
| title_full | P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1 |
| title_fullStr | P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1 |
| title_full_unstemmed | P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1 |
| title_short | P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1 |
| title_sort | p020 recommendations from the clingen peroxisomal variant curation expert panel for variant classification in abcd1 |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424000438 |
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