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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IST1

Variant:p.R82_F83del2

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IST1

NM_001270975.2:p.R82_F83del2

hg38:chr16:71916615 CTCGGTT>C

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."