Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF2
Variant:p.E86_E87Splc
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NDUFAF2

NM_174889.5:p.E86_E87Splc

Associated Papers

Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.

Lo CH et al.

The Journal of Clinical Investigation, 2024

38949024 (PubMed )
Supplement: jci-134-175560-s176.pdf
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