Varaico: Literature-Extracted Genetic Variants

Gene:SV2C
Variant:p.S561S
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SV2C

NM_014979.4:p.S561S

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

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.

Girotto G et al.

Plos One, 2013

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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."