Varaico: Literature-Extracted Genetic Variants

Gene:PLXNA1
Variant:p.M1401L
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PLXNA1

NM_032242.4:p.M1401L

Associated Papers

A Case Report of PLXNA1-Related Dworschak-Punetha Neurodevelopmental Disorder With Pachygyria and Polymicrogyria.

Das N et al.

American Journal of Medical Genetics. Part A, 2025

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.

Nishioka M et al.

Nature Communications, 2021

34145229 (PubMed )
Supplement: 41467_2021_23453_MOESM4_ESM.xlsx › Supplementary_Data_1

Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

Chang X et al.

Frontiers in Genetics, 2018

30323833 (PubMed )
Supplement: Table_1.xlsx › Sheet1

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.

Park K et al.

American Journal of Medical Genetics. Part A, 2017

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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."