Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.S229R
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ANXA11

NM_145868.2:p.S229R

Associated Papers

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

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

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

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."