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Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines

Fibrillin Clinical Significance
DOI: 10.3343/alm.2023.0152 Publication Date: 2023-10-16T06:24:49Z
Abstract Supplemental Material References Cited by
AUTHORS (4)
Seo Wan Kim
Boyeon Kim
Yoonjung Kim
Kyung-A Lee
ABSTRACT
Marfan syndrome (MFS) is caused by fibrillin-1 gene (
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