Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.P474S
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GPR50

NM_004224.3:p.P474S

Associated Papers

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.

Miroševič Š et al.

International Journal of Molecular Sciences, 2022

A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures.

Shimada S et al.

Human Genome Variation, 2014

Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.

Melander O et al.

Hypertension (dallas, Tex. : 1979), 2000

SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses.

Tomecki R et al.

Wiley Interdisciplinary Reviews. Rna, 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."