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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P3H2

Variant:p.C119Y

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P3H2

NM_018192.4:p.C119Y

hg38:chr3:190120376 C>T

Associated Papers

The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.

Musleh M et al.

Genes, 2023

37107549 (PubMed )

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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."