Varaico: Literature-Extracted Genetic Variants

Gene:OXER1
Variant:p.I80T
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OXER1

NM_148962.5:p.I80T

Associated Papers

Encephalopathy-causing mutations in Gβ1 (GNB1) alter regulation of neuronal GIRK channels.

Reddy HP et al.

Iscience, 2021

Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate.

Lansdon LA et al.

American Journal of Medical Genetics. Part A, 2021

The cytoplasmic end of transmembrane domain 3 regulates the activity of the Saccharomyces cerevisiae G-protein-coupled alpha-factor receptor.

Parrish W et al.

Genetics, 2002

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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."