Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.P1482L
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BSN

NM_003458.4:p.P1482L

Associated Papers

Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family.

Yousaf A et al.

Molecular Genetics & Genomic Medicine, 2024

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1

Retinoblastoma gene mutations detected by whole exome sequencing of Merkel cell carcinoma.

Cimino PJ et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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."