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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT5B

Variant:p.E206delFs

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KMT5B

NM_017635.5:p.E206delFs

hg38:chr11:68173838 GT>G

Associated Papers

A Novel KMT5B Frameshift Variant Presenting with Autism and Psychiatric Features: Intrafamilial Phenotypic Variation - A Case Report.

Özcan S et al.

Molecular Syndromology, 2025

41409306 (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."