Varaico: Literature-Extracted Genetic Variants

Gene:ARSG
Variant:p.R95W
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ARSG

NM_001267727.2:p.R95W

Associated Papers

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.

Abu Elasal M et al.

Genes, 2024

39062705 (PubMed )
Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.

Velde HM et al.

Human Genetics, 2022

Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.

Igelman AD et al.

Ophthalmic Genetics, 2021

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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."