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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXO1

Variant:p.E669delFs

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EXO1

NM_130398.4:p.E669delFs

hg38:chr1:241879239 GA>G

Associated Papers

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Tompson SW et al.

Human Genetics, 2007

17024374 (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."