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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRPC5

Variant:p.R17C

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TRPC5

NM_012471.3:p.R17C

hg38:chrX:111952372 G>A

Associated Papers

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Suzuki H et al.

Nature, 2019

31664194 (PubMed )

Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5

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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."