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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DOT1L

Variant:p.M147K

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DOT1L

NM_032482.3:p.M147K

hg38:chr19:2191187 T>A

Associated Papers

MLL5 is involved in retinal photoreceptor maturation through facilitating CRX-mediated photoreceptor gene transactivation.

Zhang X et al.

Iscience, 2022

35359806 (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."