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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSH

Variant:p.L164_A165Splc

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CTSH

NM_004390.5:p.L164_A165Splc

hg38:chr15:78932370 A>G

Associated Papers

Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.

Guang S et al.

Scientific Reports, 2023

37563224 (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."