Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.T244M
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ANXA11

NM_145868.2:p.T244M

Associated Papers

Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.

Ghayal NB et al.

Acta Neuropathologica, 2025

41225259 (PubMed )
Supplement: 401_2025_2958_MOESM1_ESM.xlsx › Sheet1

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

A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.

Cannon-Albright LA et al.

Cancers, 2023

38136396 (PubMed )
Supplement: cancers-15-05851-s001.zip › cancers-2619236-supplementary_MDH2_V2.xlsx › Table_S1

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

Identification of NCAN as a candidate gene for developmental dyslexia.

Einarsdottir E et al.

Scientific Reports, 2017

28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM3_ESM.xls › 3935-rare_exonic_variants

MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Rinner B et al.

Scientific Reports, 2017

28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf
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