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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IFT140

Variant:p.F321C

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IFT140

NM_014714.4:p.F321C

hg38:chr16:1587245 A>C

Associated Papers

Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.

Matczyńska E et al.

Biomedicines, 2024

38927562 (PubMed )

Supplement: biomedicines-12-01355-s001.zip › Table_S4_Novel_variants.xlsx › Sheet1

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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."