Varaico: Literature-Extracted Genetic Variants

Gene:APOBEC1
Variant:p.W21*
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APOBEC1

NM_001644.5:p.W21*

Associated Papers

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1

Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.

Hallengren E et al.

Plos One, 2015

26086970 (PubMed )
Supplement: pone.0128348.s002.xlsx › Sheet1

Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.

Armistead J et al.

American Journal of Human Genetics, 2009

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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."