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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FCSK

Variant:p.G1052D

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FCSK

NM_145059.3:p.G1052D

hg38:chr16:70479580 G>A

Associated Papers

Identification of Genetic Variants Causing Paediatric Cataract in Myanmar.

Jones JL et al.

Clinical Genetics, 2025

40229141 (PubMed )

Supplement: CGE-108-457-s001.xlsx › Supp_Table_2

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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."