Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy

An estimated 1 in 500 people live with hypertrophic cardiomyopathy (HCM), a disease for which genetic diagnosis can identify family members at risk, and increasingly guide therapy. Mutations in the myosin binding protein C3 ( ) gene account for a significant proportion of HCM cases. However, many of...

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Bibliographic Details
Published in:	bioRxiv 2025-05
Main Authors:	Yamamoto, Yuta, Chua, Kaiser, Ferrasse, Alexis, Kirilova, Anna, De Jong, Hannah N, Floyd, Brendan J, Cadisch, Christian, Wiel, Laurens, Wang, Qianru, O'Neill, Matthew J, Tabet, Daniel, Staudt, David, Goryznski, John E, Huang, Yong, Wilson, Rachel H, Sharma, Arman, Tapales, Althea, Agrawal, Rani, Wheeler, Matthew T, MacRae, Calum, Roden, Dan M, Roth, Frederick P, Glazer, Andrew M, Ashley, Euan A, Parikh, Victoria N
Format:	Article
Language:	English
Subjects:	Genetics
Citations:	Items that this one cites
Online Access:	Get full text
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