Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.C72R
Back to variants list

EBP

NM_006579.3:p.C72R

Associated Papers

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.

Jiang M et al.

Frontiers in Genetics, 2025

40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

CYBA encoding p22(phox), the cytochrome b558 alpha polypeptide: gene structure, expression, role and physiopathology.

Stasia MJ

Gene, 2016

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."