Varaico: Literature-Extracted Genetic Variants

Gene:ASRGL1
Variant:p.G178R
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ASRGL1

NM_001083926.2:p.G178R

Associated Papers

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2

A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype.

Biswas P et al.

Genes, 2022

Deletion of Asrgl1 Leads to Photoreceptor Degeneration in Mice.

Zhou Y et al.

Frontiers in Cell and Developmental Biology, 2021

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

Biswas P et al.

Human Molecular Genetics, 2016

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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."