Varaico: Literature-Extracted Genetic Variants

Gene:GNAT1
Variant:p.R138H
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GNAT1

NM_144499.3:p.R138H

Associated Papers

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.

Katanaev VL et al.

Embo Molecular Medicine, 2025

Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.

Yu X et al.

Scientific Reports, 2016

26794436 (PubMed )
Supplement: srep19759-s1.pdf

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Sun W et al.

Investigative Ophthalmology & Visual Science, 2015

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