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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPLAH

Variant:p.S270del1

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OPLAH

NM_017570.5:p.S270del1

hg38:chr8:144058377 CGGA>C

Associated Papers

Cystinosis: Status of research and treatment in India and the world.

Vashist N et al.

Journal of Biosciences, 2023

38018544 (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."