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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IBA57

Variant:p.P90R

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IBA57

NM_001010867.4:p.P90R

hg38:chr1:228166085 C>G

Associated Papers

One case of congenital myopathy caused by new mutation of RYR1 gene and literature review.

Deng Q et al.

Gene, 2023

37207825 (PubMed )

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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."