Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpretation of the numerous rare variants identified in TTN is a difficult challenge given its large size.
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
Fiorillo, Chiara;Bruno, Claudio;Minetti, Carlo;
2018-01-01
Abstract
Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpretation of the numerous rare variants identified in TTN is a difficult challenge given its large size.
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