Varaico: Literature-Extracted Genetic Variants

Gene:FSCN2
Variant:p.H138Y
Back to variants list

FSCN2

NM_012418.4:p.H138Y

Associated Papers

Common genetic etiologies of sensorineural hearing loss in Koreans.

Jang SH et al.

Genomics & Informatics, 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-s007.xlsx › Blad1

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.

Praveen K et al.

Communications Biology, 2022

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T et al.

Plos One, 2013

Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.

Gamundi MJ et al.

Molecular Vision, 2005

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

Ziviello C et al.

Journal of Medical Genetics, 2005

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."