Varaico: Literature-Extracted Genetic Variants

Gene:GUCY1A1
Variant:p.L390delFs
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GUCY1A1

NM_001130682.3:p.L390delFs

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

DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.

Kundishora AJ et al.

Jama Neurology, 2021

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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