Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.P431L
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BIN1

NM_139343.3:p.P431L

Associated Papers

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.

Zhang W et al.

Annals of Clinical and Translational Neurology, 2020

32941707 (PubMed )
Supplement: ACN3-7-1985-s002.xlsx › Sheet1

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Giau VV et al.

Scientific Reports, 2019

31182772 (PubMed )
Supplement: 41598_2019_44848_MOESM1_ESM.pdf

A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.

Giau VV et al.

Clinical Interventions in Aging, 2018

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP et al.

Scientific Reports, 2014

25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new

Genetic variation in BIN1 gene and Alzheimer's disease risk in Han Chinese individuals.

Tan MS et al.

Neurobiology of Aging, 2014

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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."