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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C5

Variant:p.I231F

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C5

NM_001735.3:p.I231F

hg38:chr9:121030464 T>A

Associated Papers

Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.

Cozzolino C et al.

Genetics and Molecular Biology, 0

29767664 (PubMed )

Supplement: 1415-4757-GMB-10159016784685GMB20170093-s001.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."