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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPART

Variant:p.S365P

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SPART

NM_015087.5:p.S365P

hg38:chr13:36329433 A>G

Associated Papers

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.

Diquigiovanni C et al.

Open Biology, 2023

37433330 (PubMed )

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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."