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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRSF2

Variant:p.P46A

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SRSF2

NM_001195427.2:p.P46A

hg38:chr17:76737025 G>C

Associated Papers

A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient.

Maekawa M et al.

Neuroscience Letters, 2009

19607881 (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."