Varaico: Literature-Extracted Genetic Variants

Gene:RYR3
Variant:p.V2267Splc
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RYR3

NM_001036.6:p.V2267Splc

Associated Papers

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.

Chen HJ et al.

Brain : a Journal of Neurology, 2019

31605140 (PubMed )
Supplement: awz313_supplementary_materials.zip › awz313-suppl_data › Supplementary_materials.pdf
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