Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1B
Variant:p.R172W
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GUCA1B

NM_002098.6:p.R172W

Associated Papers

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.

Zhou L et al.

Experimental Eye Research, 2018

Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.

Kitiratschky VB et al.

Ophthalmic Genetics, 2011

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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."