Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.A46V
Back to variants list

ANXA11

NM_145868.2:p.A46V

Associated Papers

Exploring the phenotypic fingerprints of ANXA11 variants in ALS: a population-based study in an European cohort.

Palumbo F et al.

Journal of Neurology, 2025

40690048 (PubMed )
Supplement: 415_2025_13276_MOESM1_ESM.docx

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

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

Wang Y et al.

Frontiers in Neurology, 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

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."