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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PACSIN3

Variant:p.R90_A93delFs

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PACSIN3

NM_016223.5:p.R90_A93delFs

hg38:chr11:47180624 GCGCTCAGC>G

Associated Papers

Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.

Distelmaier F et al.

Brain : a Journal of Neurology, 2024

38637313 (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."