Varaico: Literature-Extracted Genetic Variants

Gene:C1QBP
Variant:p.V248A
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C1QBP

NM_001212.4:p.V248A

Associated Papers

Complement C1q Binding Protein (C1QBP): Physiological Functions, Mutation-Associated Mitochondrial Cardiomyopathy and Current Disease Models.

Wang J et al.

Frontiers in Cardiovascular Medicine, 2022

A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses.

Alstrup M et al.

Jimd Reports, 2021

Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark.

Becher N et al.

Acta Obstetricia Et Gynecologica Scandinavica, 2020

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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."