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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE65

Variant:p.I3_Q4insT

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RPE65

NM_000329.3:p.I3_Q4insT

hg38:chr1:68449899 T>TNNN

Associated Papers

Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy.

Priluck AZ et al.

Ophthalmic Genetics, 2023

35801630 (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."