Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000174841 Individual ID 00234432 Associated disease MATINS;MHA;BDPLT6 Inheritance Isolated (sporadic) Diagnosis/Initial macrothrombocytopenia Age/Examination - Diagnosis/Definite MATINS Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details see paper; ..., abnormal platelet function, granulocytes and megakaryocytes (not platelets) with inclusions Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-05-17 11:29:57 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.