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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPGRIP1L

Variant:p.P1182delFs

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RPGRIP1L

NM_015272.5:p.P1182delFs

hg38:chr16:53619095 AG>A

Associated Papers

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.

Duque-Cordoba PA et al.

Medicine, 2023

38013309 (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."