Varaico: Literature-Extracted Genetic Variants

Gene:JAM3
Variant:p.V205fs
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JAM3

NM_032801.5:p.V205fs

Associated Papers

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Akawi NA et al.

Human Mutation, 2013

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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."