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- Title:
Genetic diagnosis can be missed by classical filtering criteria for WES in Mendelian Disorders - diagnostic strategies to approach challenging cases
- Document type:
- Meeting Abstract
- Author(s):
- Stenton, Sarah L.; Neuhofer, Christiane; Berutti, Riccardo; Kopajtich, Robert; Smirnov, Dmitrii; Prokisch, Holger
- Journal title abbreviation:
- Eur J Hum Genet
- Year:
- 2023
- Journal volume:
- 31 Suppl 1
- Pages contribution:
- 574-575
- Print-ISSN:
- 1018-4813
- TUM Institution:
- Institut für Humangenetik (Prof. Winkelmann)
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