Related Experiment Video

Updated: Jan 11, 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

14.2K

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis

Marta Bertamino1, David J Goldberg2, M Zulf Mughal3

  • 1Physical Medicine and Rehabilitation Unit, IRCCS Instituto Giannina Gaslini, Genoa, Italy.

Orphanet Journal of Rare Diseases
|November 19, 2025
PubMed
Abstract

No abstract available in PubMed .

Keywords:
ABCC6 deficiencyClinical phenotypeGACI2GenotypePXE

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

10.3K
Detection and Enrichment of Rare Antigen-specific B Cells for Analysis of Phenotype and Function09:25

Detection and Enrichment of Rare Antigen-specific B Cells for Analysis of Phenotype and Function

Published on: February 16, 2017

12.8K

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
88.7K