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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT5B

Variant:p.S832_E833del1

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KMT5B

NM_017635.5:p.S832_E833del1

hg38:chr11:68157848 TCAG>T

Associated Papers

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.

Politano D et al.

Genes, 2025

41153391 (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."