Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.R535Q
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SCNN1A

NM_001159576.2:p.R535Q

Associated Papers

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Ji J et al.

Cold Spring Harbor Molecular Case Studies, 2019

Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings.

Takeda MR et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."