Varaico: Literature-Extracted Genetic Variants

Gene:ABCA9
Variant:p.S204*
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ABCA9

NM_080283.4:p.S204*

Associated Papers

Whole genome sequencing and rare variant analysis in essential tremor families.

Odgerel Z et al.

Plos One, 2019

Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.

Hallengren E et al.

Plos One, 2015

26086970 (PubMed )
Supplement: pone.0128348.s002.xlsx › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1439.518
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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."