Varaico: Literature-Extracted Genetic Variants

Gene:UCP3
Variant:p.R119Q
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UCP3

NM_003356.4:p.R119Q

Associated Papers

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1

The human mitochondrial transport/carrier protein family. Nonsynonymous single nucleotide polymorphisms (nsSNPs) and mutations that lead to human diseases.

Wohlrab H

Biochimica Et Biophysica Acta, 0

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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."