Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV1
Variant:p.Q344*
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NDUFV1

NM_007103.4:p.Q344*

Associated Papers

Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.

Varghese F et al.

Human Molecular Genetics, 2015

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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