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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPGRIP1L

Variant:p.W1198*

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RPGRIP1L

NM_015272.5:p.W1198*

hg38:chr16:53619048 C>T

Associated Papers

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Horbacz M et al.

Frontiers in Medicine, 2025

41210864 (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."