Article

Complementary roles of structure and variant effect predictors in RyR1 clinical interpretation

2025-04-03

Abstract excerpt

RyR1-related disorders, arising from variants in the RYR1 gene encoding the skeletal muscle ryanodine receptor, encompass a wide range of dominant and recessive phenotypes. The extensive length of RyR1 and diverse mechanisms underlying disease variants pose significant challenges for clinical interpretation, exacerbated by the limited performance and biases of current variant effect predictors (VEPs). This study e...

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Literature Corpus work: ff5b0b72-3c83-5484-ba9d-2b371b2927b0
DOI: 10.1101/2025.04.02.25325085

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