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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AGBL5

Variant:p.W119delFs

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AGBL5

NM_021831.6:p.W119delFs

hg38:chr2:27053540 CT>C

Associated Papers

Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5-/- cell model of retinitis pigmentosa.

Villa-Vasquez SS et al.

Bmc Molecular and Cell Biology, 2025

40926193 (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."