Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L2
Variant:p.S433N
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NFE2L2

NM_006164.5:p.S433N

Associated Papers

Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients.

Tang J et al.

Genes, 2022

36553485 (PubMed )
Supplement: genes-13-02218-s001.zip › Supplemental_tables.xlsx › S2

Kelch-like protein 3 in human disease and therapy.

Lin Y et al.

Molecular Biology Reports, 2022

Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.

Lu S et al.

Theranostics, 2021

33456573 (PubMed )
Supplement: thnov11p2788s1.pdf

Prolonged survival and response to tepotinib in a non-small-cell lung cancer patient with brain metastases harboring MET exon 14 mutation: a research report.

Roth KG et al.

Cold Spring Harbor Molecular Case Studies, 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."