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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNB4

Variant:p.R473H

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CACNB4

NM_000726.5:p.R473H

hg38:chr2:151839264 C>T

Associated Papers

Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.

Spedicati B et al.

Genes, 2022

36360260 (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."