Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.R225R
Back to variants list

ECEL1

NM_004826.4:p.R225R

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.

Ahangari N et al.

Molecular Genetics & Genomic Medicine, 2023

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.

Jin JY et al.

Biomed Research International, 2020

ECEL1 mutation causes fetal arthrogryposis multiplex congenita.

Dohrn N et al.

American Journal of Medical Genetics. Part A, 2015

Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

Patil SJ et al.

American Journal of Medical Genetics. Part A, 2014

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."