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UOSD Genetics and Genomics of Rare Diseases (Istituto Giannina Gaslini), IGG

General information

UOSD Genetics and Genomics of Rare Diseases, IGG
Istituto Giannina Gaslini
Via G Gaslini, 5
Genova
Italy - 16147
https://www.gaslini.org/
Organization ID: 505573

Personnel

  • Isabella Ceccherini, Lab Director
    Phone: 0039-010-56362800
    Email: isa.c@unige.it
  • Ivana Matera, Principal Investigator
    Phone: 0039-010-56362725
    Email: i_matera@unige.it

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 12

Gene

GeneSubmissionsLast Updated
ACTG211May 10, 2020
UFSP21Aug 30, 2017

Condition

NameSubmissionsLast Updated
Chronic intestinal pseudoobstruction4Oct 25, 2015
Hip dysplasia, Beukes type1Aug 30, 2017
Megacystis2Oct 25, 2015
Visceral myopathy 17May 10, 2020