Varaico: Literature-Extracted Genetic Variants

Gene:ARSG
Variant:p.D44N
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ARSG

NM_001267727.2:p.D44N

Associated Papers

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Bauwens M et al.

Clinical Genetics, 2025

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

Velde HM et al.

Human Genetics, 2022

Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome.

Fowler NH et al.

Ophthalmic Genetics, 2021

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.

Peter VG et al.

Human Mutation, 2021

Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4.

Abad-Morales V et al.

American Journal of Ophthalmology Case Reports, 2020

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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."