Varaico: Literature-Extracted Genetic Variants

Gene:MAP1B
Variant:p.S1400G
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MAP1B

NM_005909.5:p.S1400G

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

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Lee SY et al.

Cell Reports. Medicine, 2025

40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.

Toyama M et al.

Plos One, 2022

35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1

Navigating Hereditary Hearing Loss: Pathology of the Inner Ear.

Nicolson T

Frontiers in Cellular Neuroscience, 2021

Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss.

Cui L et al.

Jci Insight, 2020

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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."