Varaico: Literature-Extracted Genetic Variants

Gene:ROBO3
Variant:p.R257P
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ROBO3

NM_022370.4:p.R257P

Associated Papers

A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.

Gu F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30700791 (PubMed )
Supplement: NIHMS1521482-supplement-Large_Excel_File_1.xlsx › ConfirmedDiagnosesAgreed

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."