Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.A51V
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NHS

NM_001291867.2:p.A51V

Associated Papers

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Conflicting_Pathogenicity_

Conserved ectodomain cysteines are essential for rat P2X7 receptor trafficking.

Jindrichova M et al.

Purinergic Signalling, 2012

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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."