Related Experiment Video

Updated: Jul 8, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Correspondence on "Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features"

Himanshu Goel1

  • 1Hunter Genetics, PO Box 84, Waratah NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|July 7, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
Axonal neuropathyCharcot-Marie-Tooth diseaseCranial nerve involvementFAT3Neurodevelopmental disorder

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin08:07

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin

Published on: March 24, 2023

Related Concept Videos

Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Pedigree Analysis01:35

Pedigree Analysis

Overview