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Congenital myopathy due to pathogenic missense variant in the MYBPC1 gene

by Bhandari, Vinaya, Kim, Raymond, Faghfoury, Hanna, Silver, Josh, Chan, Raymond H, Ding, Qiliang, Schwartz, Marci Lb, Bril, Vera
Published in Canadian journal of neurological sciences (14.08.2023)

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Using whole genome sequence findings to assess gene-disease causality in cardiomyopathy and arrhythmia patients

by Krishnan, Aishwarya Rajesh, Schwartz, Marci LB, Somerville, Cherith, Ding, Qiliang, Kim, Raymond H
Published in Future cardiology (01.09.2023)

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Journal Article

Congenital myopathy due to pathogenic missense variant in the MYBPC1 gene

Using whole genome sequence findings to assess gene-disease causality in cardiomyopathy and arrhythmia patients

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