Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.R275C
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BFSP1

NM_001195.5:p.R275C

Associated Papers

Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.

Saba N et al.

Molecular Biology Reports, 2026

Genetic Aberration Analysis in Thai Colorectal Adenoma and Early-Stage Adenocarcinoma Patients by Whole-Exome Sequencing.

Intarajak T et al.

Cancers, 2019

31336886 (PubMed )
Supplement: cancers-11-00977-s001.zip › supplementary_file › supplementary_table_2.xlsx › somatic_normal_tumor

JAK-STAT and G-protein-coupled receptor signaling pathways are frequently altered in epitheliotropic intestinal T-cell lymphoma.

Nairismägi ML et al.

Leukemia, 2016

26854024 (PubMed )
Supplement: leu201613x3.xls › ST5
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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."