Varaico: Literature-Extracted Genetic Variants

Gene:NIPSNAP1
Variant:p.R33Splc
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NIPSNAP1

NM_003634.4:p.R33Splc

Associated Papers

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

Calvo SE et al.

Nature Genetics, 2010

20818383 (PubMed )
Supplement: NIHMS228290-supplement-2.xls › per_sample
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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."