Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.V949L
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NBAS

NM_015909.4:p.V949L

Associated Papers

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.

Maksimova N et al.

Journal of Medical Genetics, 2010

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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."