Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
autosomal dominant Ehlers-Danlos syndrome, vascular type
OMIM:130050
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
09/01/2017
PubMed IDs:
1757960 7749417 9147870 1496983 7581395 2243125 10051163 10928898 2492273 8098182 8990011 2349939 2365710 8664902 1357232 12786757 1895316 10706896 8477261 8320698 12694234 19455184 1998337 2834369
Assertion Criteria:
Submitter Submitted Date:
09/11/2023

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