Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1L
Variant:p.R251*
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RPGRIP1L

NM_015272.5:p.R251*

Associated Papers

Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes.

Pollara L et al.

Stem Cell Research, 2025

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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."