Paper Details

Paper Title

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

Paper Journal Title

Sci Rep

Paper Citation Count

Paper Publication Year

2022

Bio Mention

CCD, CFTD, Central Core Disease, Congenital Fibre-Type, MH, MMD, Malignant Hyperthermia, Multiminicore Disease, RYR1, RYR1 gene, RYR1 pathogenic variants, RYR1 variant, RYR1 variants, RYR1-associated conditions, calcium, congenital myopathies, mutational hotspots, pathogenic variants, ryanodine, ryanodine receptor, skeletal muscle

Mesh Descriptor

Author Name	Affiliation
Jianjun Liu	Genome Institute of Singapore
Jianjun Liu	Yong Loo Lin School of Medicine, National University of Singapore
Lian Kah Ti	Yong Loo Lin School of Medicine, National University of Singapore
Lian Kah Ti	National University Health System

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Dataset	Description	Source Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.	Link
ClinVar	ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publ	Link

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