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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPHKAP

Variant:p.W257*

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SPHKAP

NM_001142644.2:p.W257*

hg38:chr2:228020084 C>T

Associated Papers

High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.

Souček P et al.

Rna Biology, 2019

31213135 (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."