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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLCB1

Variant:p.P813_I814del2

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PLCB1

NM_015192.4:p.P813_I814del2

hg38:chr20:8741485 ACCCAAT>A

Associated Papers

De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype.

Nicotera AG et al.

Journal of Neurogenetics, 0

33821742 (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."