Varaico: Literature-Extracted Genetic Variants

Gene:MAP1B
Variant:p.R1790*
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MAP1B

NM_005909.5:p.R1790*

Associated Papers

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families.

Archer J et al.

Clinical Genetics, 2026

Novel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B.

Zhou C et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

Schmitz-Abe K et al.

European Journal of Human Genetics : Ejhg, 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."