Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A6
Variant:p.Y531Splc
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SLC12A6

NM_001365088.1:p.Y531Splc

Associated Papers

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Antoniadi T et al.

Bmc Medical Genetics, 2015

26392352 (PubMed )
Supplement: 12881_2015_224_MOESM2_ESM.xlsx › ST2
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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."