NDLI: The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report.

Content Provider	Europe PMC
Author	Ratajska, Aleksandra Vigeland, Magnus D. Wirgenes, Katrine Verena Krohg‐Sørensen, Kirsten Paus, Benedicte
Page Count	6
Journal	Molecular Genetics & Genomic Medicine
Volume Number	11
PubMed Central reference number	PMC9938750
Issue Number	2
PubMed reference number	36495030
e-ISSN	23249269
DOI	10.1002/mgg3.2107
Language	English
Publisher	John Wiley and Sons Inc.
Publisher Date	2022-12-09
Publisher Place	Hoboken
Access Restriction	Open
Rights License	This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
Subject Keyword	heritable thoracic aneurysms and dissections (HTAAD) Loeys–Dietz syndrome next‐generation sequencing segregation analysis SMAD3 variant interpretation
Content Type	Text
Resource Type	Article
Subject	Genetics Molecular Biology Genetics (clinical)

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