Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.E25K
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ITM2B

NM_021999.5:p.E25K

Associated Papers

Two Finnish USH1B patients with three novel mutations in myosin VIIA.

Vastinsalo H et al.

Molecular Vision, 2006

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

Lévy G et al.

Human Molecular Genetics, 1997

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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."