Varaico: Literature-Extracted Genetic Variants

Gene:ASB18
Variant:p.R422H
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ASB18

NM_212556.4:p.R422H

Associated Papers

Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Miller EM et al.

Oncotarget, 2017

29254223 (PubMed )
Supplement: oncotarget-08-102033-s003.xlsx › macrogen_wes.n65_t65.varscan.sn

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.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."