Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.P567R
Back to variants list

ECEL1

NM_004826.4:p.P567R

Associated Papers

Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.

Illés A et al.

Children (basel, Switzerland), 2024

Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis.

Huang W et al.

Bmc Medical Genomics, 2023

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Pollazzon M et al.

Genes, 2021

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."