Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA5
Variant:p.P250T
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CHRNA5

NM_000745.4:p.P250T

Associated Papers

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S et al.

Scientific Reports, 2017

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.

Lucariello M et al.

Human Genetics, 2016

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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."