Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.A38T
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RYR1

NM_000540.3:p.A38T

Associated Papers

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

Estañ MC et al.

Nature Communications, 2019

30770808 (PubMed )
Supplement: 41467_2019_8548_MOESM2_ESM.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."