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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C5

Variant:p.S630_D631del2

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C5

NM_001735.3:p.S630_D631del2

hg38:chr9:121016356 GATCACT>G

Associated Papers

Functional Characterization of a Novel PBX1 De Novo Missense Variant Identified in a Pediatric Patient with CAKUT.

Scolari C et al.

Genes, 2025

41300798 (PubMed )

Supplement: genes-16-01346-s001.zip › genes-3940097-supplementary.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."