Varaico: Literature-Extracted Genetic Variants

Gene:COX7B
Variant:p.V14Splc
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COX7B

NM_001866.3:p.V14Splc

Associated Papers

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.

Indrieri A et al.

Genes, 2021

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

Indrieri A et al.

American Journal of Human Genetics, 2012

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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."