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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAPRE3

Variant:p.L230_R231delFs

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MAPRE3

NM_012326.4:p.L230_R231delFs

hg38:chr2:27025943 CTTCG>C

Associated Papers

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

Vervoort R et al.

Nature Genetics, 2000

10932196 (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."