Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.G112E
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BFSP2

NM_003571.4:p.G112E

Associated Papers

Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.

Guo D et al.

Progress in Retinal and Eye Research, 2025

Intermediate filaments and their associated molecules.

Gao J et al.

Journal of Biomedical Research, 2025

39930669 (PubMed )
Supplement: jbr-39-3-242-Supplementary.pdf

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.

Liu Q et al.

Current Eye Research, 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."