Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A12
Variant:p.C340F
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SLC5A12

NM_178498.4:p.C340F

Associated Papers

Discovery of naturally occurring ESR1 mutations in breast cancer cell lines modelling endocrine resistance.

Martin LA et al.

Nature Communications, 2017

29192207 (PubMed )
Supplement: 41467_2017_1864_MOESM3_ESM.xlsx › MCF7-LTEDY537C

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_3_late_met_1

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP et al.

Scientific Reports, 2014

25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new

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."