Varaico: Literature-Extracted Genetic Variants

Gene:NIPSNAP2
Variant:p.R31Splc
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NIPSNAP2

NM_001483.3:p.R31Splc

Associated Papers

Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies.

Smits P et al.

Journal of Inherited Metabolic Disease, 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."