Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.G137R
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ANXA11

NM_145868.2:p.G137R

Associated Papers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

Genetic and in silico analysis of Indian sporadic young onset patient with amyotrophic lateral sclerosis.

Roychowdhury S et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature review.

Zhang X et al.

Frontiers in Neurology, 2023

Emerging Roles for Phase Separation of RNA-Binding Proteins in Cellular Pathology of ALS.

Milicevic K et al.

Frontiers in Cell and Developmental Biology, 2022

ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia.

Wang Y et al.

Frontiers in Neurology, 2022

Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variants.

Sung W et al.

Brain Communications, 2022

ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.

Nahm M et al.

Science Translational Medicine, 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."