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Neuromuscular Disorders Flagship

dataset
posted on 2020-06-25, 05:30 authored by Melbourne Academic Centre for Health (MACH)
Collection of demographic, clinical minimum dataset, genomic variant interpretation data.

History

Institution name

Murdoch Children's Research Institute

Unit name

Australian Genomics

Principal contact name

Stefanie Elbracht-Leong

Principal contact email address

stef.elbrachtleong@mcri.edu.au

Dataset ID

NMD Phen

Available for research?

  • Yes

Collaborating institutions information

AGHA collaborators and partners

Number of people/participants

123

Data source

  • Clinical
  • Research

Data source details

Data collected for a research project, however some data was collected in a clinical setting.

Study or collection type

  • Research database/databank

Data collection started

March 2017

Dataset still being added to?

  • Yes

Additional comments

All AGHA flagship datasets are under embargo for external access until 12 months after the final sequencing report for that flagship has been delivered.