Varaico: Literature-Extracted Genetic Variants

Gene:ACOX1
Variant:p.R591C
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ACOX1

NM_004035.7:p.R591C

Associated Papers

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.

Burkhalter MD et al.

The Journal of Clinical Investigation, 2019

Genomic alterations in gastric cancers discovered via whole-exome sequencing.

Zhang J et al.

Bmc Cancer, 2018

30567531 (PubMed )
Supplement: 12885_2018_5097_MOESM2_ESM.xlsx › Additional_files_Table_S2

A role for TENM1 mutations in congenital general anosmia.

Alkelai A et al.

Clinical Genetics, 2016

27040985 (PubMed )
Supplement: supplement_1.pdf
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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."