Varaico: Literature-Extracted Genetic Variants

Gene:KRT76
Variant:p.A39G
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KRT76

NM_015848.4:p.A39G

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_MOESM3_ESM.xlsx › skeletal_muscle

Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations.

Brown D et al.

Nature Communications, 2017

28429735 (PubMed )
Supplement: ncomms14944-s4.xlsx › Patient__3_92

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_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."