Varaico: Literature-Extracted Genetic Variants

Gene:LINS1
Variant:p.L393*
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LINS1

NM_001040616.3:p.L393*

Associated Papers

Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage.

Alimoradi E et al.

Molecular Genetics & Genomic Medicine, 2026

Domain-specific phenotypes in LINS1-related disorder-A Chinese family with the Q92X variant and literature review.

Li XY et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.

Neuhofer CM et al.

Neurology. Genetics, 2020

Worster-Drought Syndrome Associated With LINS Mutations.

McMillan HJ et al.

Child Neurology Open, 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."