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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSPAN12

Variant:p.N40D

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TSPAN12

NM_012338.4:p.N40D

hg38:chr7:120840058 T>C

Associated Papers

Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy.

Dan H et al.

Bmc Medical Genomics, 2022

35277167 (PubMed )

Supplement: 12920_2022_1204_MOESM1_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."