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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MEF2C

Variant:p.Q18E

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MEF2C

NM_002397.5:p.Q18E

hg38:chr5:88823737 G>C

Associated Papers

Improvement of variant reclassification in genetic neurodevelopmental conditions.

Kowanda M et al.

Genetics in Medicine Open, 2024

39669614 (PubMed )

Supplement: mmc2.xlsx › Classification_criteria_applied

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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."