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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITSN1

Variant:p.F204L

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ITSN1

NM_003024.3:p.F204L

hg38:chr21:33751893 T>C

Associated Papers

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Ashraf S et al.

Nature Communications, 2018

29773874 (PubMed )

Supplement: 41467_2018_4193_MOESM1_ESM.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."