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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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