Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.P2058P
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RP1L1

NM_178857.6:p.P2058P

Associated Papers

A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.

Latasiewicz M et al.

Ophthalmic Genetics, 2017

28453362 (PubMed )
Supplement: supplement_1.docx
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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."