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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RP1L1

Variant:p.D1425E

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RP1L1

NM_178857.6:p.D1425E

hg38:chr8:10609823 G>T

Associated Papers

Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.

Piermarocchi S et al.

Molecular Medicine Reports, 2016

26782618 (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."