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Unit of Genetics and Genomics of Neuromuscular Diseases (Principe Felipe Research Center)

General information

Unit of Genetics and Genomics of Neuromuscular Diseases
Principe Felipe Research Center
C/ Eduardo Primo Yúfera 3
Valencia
Comunidad Valenciana
Spain - 46012
http://www.cipf.es
Organization ID: 506251

Personnel

  • Vincenzo Lupo, Genetic Counselor
    Phone: 34 963 289 680 (Ext.1202)
    Email: vlupo@cipf.es

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 3

    Gene

    GeneSubmissionsLast Updated
    ABHD121Jun 30, 2017
    FGD42Dec 14, 2018

    Condition

    NameSubmissionsLast Updated
    Charcot-Marie-Tooth disease type 4H2Dec 14, 2018
    PHARC syndrome1Jun 30, 2017