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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IREB2

Variant:p.I14_D19delFs

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IREB2

NM_004136.4:p.I14_D19delFs

hg38:chr15:78439816 TTGAAACATTAAATGAC>T

Associated Papers

Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.

Millonig G et al.

Human Genomics, 2010

20511138 (PubMed )

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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."