Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP2
Variant:p.C127R
Back to variants list

EFEMP2

NM_016938.5:p.C127R

Associated Papers

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Thauvin-Robinet C et al.

Prenatal Diagnosis, 2024

Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.

Favier M et al.

Prenatal Diagnosis, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."