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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OFD1

Variant:p.E302fs

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OFD1

NM_003611.3:p.E302fs

hg38:chrX:13749502 GAG>N

Associated Papers

PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.

Kimura T et al.

Biomolecules, 2023

37509056 (PubMed )

Supplement: biomolecules-13-01020-s001.zip › biomolecules-2403734-supplementary_correct.xlsx › Table_S1

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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."