Global Variome shared LOVD

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

Phenotype #0000144317 Individual ID 00183649 Associated disease PJS Phenotype details small bowel cancer with polyposis and mucocutaneous pigmentation. Son of proband also has pigmentation and is carrier of the mutation Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Rajiv Sarin, PhD Database submission license No license selected Created by Johan den Dunnen Date created 2018-10-27 07:40:19 +02:00 (CEST) Date last edited N/A

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