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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TIMM17B

Variant:p.V42I

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TIMM17B

NM_001395498.1:p.V42I

hg38:chrX:48896761 C>T

Associated Papers

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.

Burkhalter MD et al.

The Journal of Clinical Investigation, 2019

31094706 (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."