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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC3A2

Variant:p.L147H

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SLC3A2

NM_001013251.3:p.L147H

hg38:chr11:62881908 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."