학술논문

A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.
Document Type
Article
Source
Cold Spring Harbor Molecular Case Studies; 2020, Vol. 6 Issue 3, p1-7, 7p
Subject
DE Lange's syndrome
MOSAICISM
NUCLEOTIDE sequencing
MOLECULAR diagnosis
BLOOD testing
Language
ISSN
23732873
Abstract
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