Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.V4854M
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RYR1

NM_000540.3:p.V4854M

Associated Papers

Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.

Hong SE et al.

Journal of Medical Genetics, 2022

35387801 (PubMed )
Supplement: jmedgenet-2021-108307supp001.xlsx › S2._PathogenicVar_WES_RNAseq
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