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3 articles related to "Hypomorphic Allele"

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Articles

Original Research

Published on 05 Sep 2016

The Drosophila KIF1A Homolog unc-104 Is Important for Site-Specific Synapse Maturation

in Cellular Neurophysiology

Yao V. Zhang
Shabab B. Hannan
Zeenna A. Stapper
Jeannine V. Kern
Thomas R. Jahn
Tobias M. Rasse

Frontiers in Cellular Neuroscience

doi 10.3389/fncel.2016.00207

7,363 views
30 citations

Original Research

Published on 17 Oct 2022

The Arabidopsis ATP-Binding Cassette E protein ABCE2 is a conserved component of the translation machinery

in Plant Biotechnology

Carla Navarro-Quiles
Eduardo Mateo-Bonmatí
Héctor Candela
Pedro Robles
Antonio Martínez-Laborda
Yolanda Fernández
Jan Šimura
Karin Ljung
Vicente Rubio
María Rosa Ponce

Frontiers in Plant Science

doi 10.3389/fpls.2022.1009895

5,557 views
6 citations

Case Report

Published on 14 Mar 2025

Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele

in Genetics of Common and Rare Diseases

Akash Mathavan
Akshay Mathavan
Urszula Krekora
Adityanarayan Rao
Marc S. Zumberg
Jeb Justice
Pinar Bayrak-Toydemir
Jamie McDonald
Ali Ataya

Frontiers in Genetics

doi 10.3389/fgene.2025.1554624

2,349 views
1 citation