Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.A895_R896ins4
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PEX1

NM_000466.3:p.A895_R896ins4

Associated Papers

Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.

Bilamge A et al.

Journal of Child Neurology, 2025

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

Expanding the clinical and genetic spectrum of Heimler syndrome.

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2019

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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."