Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.L662P
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NBN

NM_002485.5:p.L662P

Associated Papers

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

Feldmann J et al.

American Journal of Human Genetics, 2002

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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."