Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.E269K
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BFSP1

NM_001195.5:p.E269K

Associated Papers

Generation of Lens Progenitor Cells and Lentoid Bodies from Pluripotent Stem Cells: Novel Tools for Human Lens Development and Ocular Disease Etiology.

Cvekl A et al.

Cells, 2022

Generation of an induced pluripotent stem cell line (SYSUSCi001-A) from a congenital cataract patient carrying heterozygous mutations in BFSP1 and RHO.

Chen F et al.

Stem Cell Research, 2022

Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.

Zhou YY et al.

Frontiers in Genetics, 2022

35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R

Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.

Le Gallo M et al.

Nature Genetics, 2012

23104009 (PubMed )
Supplement: NIHMS412622-supplement-3.xls › Supplementary_Table_4
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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."