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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DCHS1

Variant:p.G2122Splc

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DCHS1

NM_003737.4:p.G2122Splc

hg38:chr11:6626551 C>G

Associated Papers

De novo DCHS1 splicing mutation in a patient with mitral valve prolapse.

Li D et al.

Qjm : Monthly Journal of the Association of Physicians, 2023

36053189 (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."