Varaico: Literature-Extracted Genetic Variants

Gene:ASPSCR1
Variant:p.A150D
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ASPSCR1

NM_024083.4:p.A150D

Associated Papers

Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role.

Andrade PV et al.

Genes, 2023

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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."