Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.R302C
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ANXA11

NM_145868.2:p.R302C

Associated Papers

The genetic architecture of primary lateral sclerosis in a cohort of Italian patients.

Schito P et al.

Journal of Neurology, 2025

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_query_results

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

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Acosta-Uribe J et al.

Genome Medicine, 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

A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features.

Sainouchi M et al.

Acta Neuropathologica Communications, 2021

Structure of the ALS Mutation Target Annexin A11 Reveals a Stabilising N-Terminal Segment.

Lillebostad PAG et al.

Biomolecules, 2020

ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia.

Zhang K et al.

Neurology. Genetics, 2018

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."