Varaico: Literature-Extracted Genetic Variants

Gene:TMC6
Variant:p.G191D
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TMC6

NM_001127198.5:p.G191D

Associated Papers

Structural Capacitance in Protein Evolution and Human Diseases.

Li C et al.

Journal of Molecular Biology, 2018

Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.

Nettuwakul C et al.

Scientific Reports, 2018

29992996 (PubMed )
Supplement: 41598_2018_28623_MOESM1_ESM.pdf

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

Emond MJ et al.

Plos Genetics, 2015

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."