Varaico: Literature-Extracted Genetic Variants

Gene:GUCY1A1
Variant:p.R349*
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GUCY1A1

NM_001130682.3:p.R349*

Associated Papers

Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.

Guey S et al.

Human Genomics, 2023

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.

Hervé D et al.

American Journal of Human Genetics, 2014

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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."