Varaico: Literature-Extracted Genetic Variants

Gene:NCL
Variant:p.Q11*
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NCL

NM_005381.3:p.Q11*

Associated Papers

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF et al.

Human Mutation, 2008

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.

Ginjaar HB et al.

Journal of Neurology, 2000

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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."