Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.C228fs
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NBAS

NM_015909.4:p.C228fs

Associated Papers

PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.

Trakadis YJ et al.

Bmc Medical Genomics, 2014

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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."