Article

Variant landscape of the<i>RYR1 gene</i>based on whole genome sequencing of the Singaporean population

2021-08-12

Abstract excerpt

<h4>Background</h4> The RYR1 gene codes for a ryanodine receptor which is a calcium release channel in the skeletal muscle sarcoplasmic reticulum. It is associated with Malignant Hyperthermia (MH) and several congenital myopathies including Central Core Disease (CCD), Multiminicore Disease (MMD) and Congenital Fibre-Type Disproportion (CFTD). There is currently little information on the epidemiology of RYR1 varian...

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Literature Corpus work: 68370df6-52bd-5ec4-85fc-fb6d61da2f01
DOI: 10.1101/2021.08.11.21261947

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