Varaico: Literature-Extracted Genetic Variants

Gene:MAP1B
Variant:p.A273delFs
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MAP1B

NM_005909.5:p.A273delFs

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

Severe Elimination Disorders and Normal Intelligence in a Case of MAP1B Related Syndrome: A Case Report.

Brambila-Tapia AJL et al.

Genes, 2025

MAP1B related syndrome: Case presentation and review of literature.

Julca DM et al.

American Journal of Medical Genetics. Part A, 2019

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

Heinzen EL et al.

Plos 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."