Varaico: Literature-Extracted Genetic Variants

Gene:JOSD2
Variant:p.R130C
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JOSD2

NM_001270639.2:p.R130C

Associated Papers

BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia.

Roohollahi K et al.

Scientific Reports, 2022

34997070 (PubMed )
Supplement: 41598_2021_4042_MOESM2_ESM.xlsx › Supp.File.1

Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.

Takahashi K et al.

Human Genome Variation, 2018

30302266 (PubMed )
Supplement: 41439_2018_28_MOESM5_ESM.xlsx › 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."