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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LSS

Variant:p.R116H

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LSS

NM_002340.6:p.R116H

hg38:chr21:46222711 C>T

Associated Papers

SCISSOR: a framework for identifying structural changes in RNA transcripts.

Choi HY et al.

Nature Communications, 2021

33436599 (PubMed )

Supplement: 41467_2020_20593_MOESM1_ESM.pdf

Lanosterol reverses protein aggregation in cataracts.

Zhao L et al.

Nature, 2015

26200341 (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."