Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.R210W
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ANXA11

NM_145868.2:p.R210W

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

Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.

Spagnoli C et al.

Genes, 2021

34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S1.xlsx › Sheet1

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

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

Yoo Y et al.

Annals of Neurology, 2017

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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."