Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1B
Variant:p.R44H
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GUCA1B

NM_002098.6:p.R44H

Associated Papers

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

Martin-Merida I et al.

Investigative Ophthalmology & Visual Science, 2018

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

Fernandez-San Jose P et al.

Investigative Ophthalmology & Visual Science, 2015

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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."