Varaico: Literature-Extracted Genetic Variants

Gene:LINGO1
Variant:p.R290H
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LINGO1

NM_032808.7:p.R290H

Associated Papers

A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.

Ahmad R et al.

Neurogenetics, 2025

The genetic cause of neurodevelopmental disorders in 30 consanguineous families.

Paracha SA et al.

Frontiers in Medicine, 2024

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

Ansar M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."