Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.A365V
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RYR1

NM_000540.3:p.A365V

Associated Papers

Genetic variants and down-regulation of CACNA1H in pheochromocytoma.

Svahn F et al.

Endocrine-related Cancer, 2024

38864697 (PubMed )
Supplement: supplementary_tables.xlsx › Table_S2

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.

Barbosa-Gouveia S et al.

Journal of Clinical Medicine, 2022

35628876 (PubMed )
Supplement: jcm-11-02750-s001.zip › jcm-1640664-supplementary.pdf
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