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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KDM5B

Variant:p.L523F

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KDM5B

NM_001314042.2:p.L523F

hg38:chr1:202755348 C>G

Associated Papers

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Borroto MC et al.

Genes, 2024

39202393 (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."