Varaico: Literature-Extracted Genetic Variants

Gene:MED13L
Variant:p.L559insFs
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MED13L

NM_015335.5:p.L559insFs

Associated Papers

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Anderson EN et al.

American Journal of Human Genetics, 2026

41468891 (PubMed )
Supplement: mmc1.pdf
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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."