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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POC5

Variant:p.M325_L326Splc

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POC5

NM_001099271.2:p.M325_L326Splc

hg38:chr5:75689362 C>G

Associated Papers

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J et al.

International Journal of Molecular Sciences, 2021

33546218 (PubMed )

Supplement: ijms-22-01508-s001.zip › Supplementary_Files › Supplementary_Table_S1_Candidate_variants_undiagnosed_cases.xlsx › Supplementary_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."