Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.Q362_E363Splc
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ANXA11

NM_145868.2:p.Q362_E363Splc

Associated Papers

Semantic variant primary progressive aphasia with ANXA11 p.D40G.

Lee SM et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.

Ahn JH et al.

Npj Genomic Medicine, 2024

39609445 (PubMed )
Supplement: 41525_2024_449_MOESM3_ESM.xlsx › Table_S2

Annexin A11 aggregation in FTLD-TDP type C and related neurodegenerative disease proteinopathies.

Robinson JL et al.

Acta Neuropathologica, 2024

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

Theme 2 Genetics and genomics.

Roggenbuck J et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019

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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."