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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPHKAP

Variant:p.G611_E613del3

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SPHKAP

NM_001142644.2:p.G611_E613del3

hg38:chr2:228019013 GCTTCCTTGC>G

Associated Papers

Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.

Bychkov I et al.

International Journal of Molecular Sciences, 2021

33923806 (PubMed )

Supplement: ijms-22-04154-s001.zip › ijms-1142860-supplementary.pdf

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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."