Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population

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 congenital myopathies including Central Core Disease (CCD), Multiminicore Disease (MMD) and Congenital Fibre-Type Dispr...

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Detalles Bibliográficos
Autores principales: Foo, Claribel Tian Yu, To, Yi Hui, Irwanto, Astrid, Ng, Alvin Yu-Jin, Yan, Benedict, Chew, Sophia Tsong Huey, Liu, Jianjun, Ti, Lian Kah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8971428/
https://www.ncbi.nlm.nih.gov/pubmed/35361824
http://dx.doi.org/10.1038/s41598-022-09310-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8971428/
https://www.ncbi.nlm.nih.gov/pubmed/35361824
http://dx.doi.org/10.1038/s41598-022-09310-w

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