Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.A244V
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PRX

NM_181882.3:p.A244V

Associated Papers

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual

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

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Høyer H et al.

Biomed Research International, 2014

25025039 (PubMed )
Supplement: 210401.f1.pdf
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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."