Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.R1418delFs
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ALMS1

NM_015120.4:p.R1418delFs

Associated Papers

Ophthalmic findings in Alström syndrome.

Zhou Y et al.

Ophthalmic Genetics, 2024

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.

Bea-Mascato B et al.

Genes, 2021

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

Sanchez-Navarro I et al.

Scientific Reports, 2018

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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."