Varaico: Literature-Extracted Genetic Variants

Gene:BST1
Variant:p.V272M
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BST1

NM_004334.3:p.V272M

Associated Papers

Genetic Basis of Sleep Dysfunction in Parkinson's Disease and Parkinsonism.

Wan YM et al.

Sleep Medicine Clinics, 2025

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder.

Mufti K et al.

Neurology, 2021

Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients.

Gorski MM et al.

Blood, 2016

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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."