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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PABPC1

Variant:p.Q448*

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PABPC1

NM_002568.4:p.Q448*

hg38:chr8:100706992 G>A

Associated Papers

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Pippucci T et al.

Plos One, 2013

24358150 (PubMed )

Supplement: pone.0082154.s002.xls › Sheet1

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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."