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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RINT1

Variant:p.Q564del1

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RINT1

NM_021930.6:p.Q564del1

hg38:chr7:105563750 ACAG>A

Associated Papers

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.

Launay N et al.

The Journal of Clinical Investigation, 2023

37463447 (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."