Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.E154fs
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PQBP1

NM_001032382.2:p.E154fs

Associated Papers

Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.

Qiao F et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021

Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.

Rusch M et al.

Nature Communications, 2018

30262806 (PubMed )
Supplement: 41467_2018_6485_MOESM9_ESM.xlsx › 6B.EXONIC_INDEL_VALIDATION

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

de Brouwer AP et al.

Human Mutation, 2007

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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."