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- Title:
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes
- Document type:
- Zeitschriftenaufsatz
- Author(s):
- Smirnov, Dmitrii ; Schlieben, Lea D. ; Peymani, Fatemeh ; Berutti, Riccardo ; Prokisch, Holger
- Keywords:
- SPECIAL ARTICLE ; guidelines ; rare disorders ; RNA sequencing ; variant interpretation
- Journal title:
- Human Mutation
- Year:
- 2022
- Journal volume:
- 43
- Journal issue:
- 8
- Pages contribution:
- 1056-1070
- Fulltext / DOI:
- doi:10.1002/humu.24416
- E-ISSN:
- 1059-7794 ; 1098-1004
- Date of publication:
- 29.06.2022
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