Varaico: Literature-Extracted Genetic Variants

Gene:IFT172
Variant:p.A1200T
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IFT172

NM_015662.3:p.A1200T

Associated Papers

Enhanced genotype-phenotype analysis using multimodal adaptive optics and 3D protein structure in Bietti Crystalline Dystrophy.

Kumar A et al.

American Journal of Ophthalmology Case Reports, 2025

40236510 (PubMed )
Supplement: mmc1.pdf

Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report.

Song C et al.

Ophthalmic Genetics, 2025

39544142 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Select a paper to view details
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