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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLXNA2

Variant:p.T197A

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PLXNA2

NM_025179.4:p.T197A

hg38:chr1:208217334 T>C

Associated Papers

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.

Jurkute N et al.

Npj Genomic Medicine, 2022

36266294 (PubMed )

Supplement: 41525_2022_330_MOESM2_ESM.docx

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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."