Varaico: Literature-Extracted Genetic Variants

Gene:MAP1B
Variant:p.K711delFs
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MAP1B

NM_005909.5:p.K711delFs

Associated Papers

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

MAP1B related syndrome: Case presentation and review of literature.

Julca DM et al.

American Journal of Medical Genetics. Part A, 2019

MAP1B mutations cause intellectual disability and extensive white matter deficit.

Walters GB et al.

Nature Communications, 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."