Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.R191Q
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ANXA11

NM_145868.2:p.R191Q

Associated Papers

Annexin A11 mutations are associated with nuclear envelope dysfunction in vivo and in human tissues.

Marchica V et al.

Brain : a Journal of Neurology, 2025

ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons.

Klickstein JA et al.

Stem Cell Reports, 2024

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Smith BN et al.

Science Translational Medicine, 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."