Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.F37fs
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ECEL1

NM_004826.4:p.F37fs

Associated Papers

Proteogenomic characterization of invasive breast tumors in young women.

Raj-Kumar PK et al.

Npj Breast Cancer, 2025

40826002 (PubMed )
Supplement: 41523_2025_793_MOESM3_ESM.xlsx › S2E

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf

Long term ophthalmic complications of distal arthrogryposis type 5D.

Cohen D et al.

Ophthalmic Genetics, 2023

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.

Alesi V et al.

International Journal of Molecular Sciences, 2021

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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."