Varaico: Literature-Extracted Genetic Variants

Gene:NPAT
Variant:p.V575I
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NPAT

NM_002519.3:p.V575I

Associated Papers

Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.

Guggenheim JA et al.

Human Molecular Genetics, 2022

35022715 (PubMed )
Supplement: hmg_r2_supplement_ddac004.pdf
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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."