Genetics in Medicine Open (Jan 2023)

P483: Genome sequence re-analysis reveals de-novo FBXW7 canonical splice variant in newly described neurodevelopmental syndrome

Daniel Helbling,
Jerica Lenberg,
Arivudainambi Ramalingam,
Kristen Wigby

Affiliations

Daniel Helbling: Rady Children's Hospital
Jerica Lenberg: Rady Children's Hospital
Arivudainambi Ramalingam: Rady Children's Hospital
Kristen Wigby: Rady Children's Hospital

Journal volume & issue: Vol. 1, no. 1
p. 100530

Abstract

No abstracts available.

Published in Genetics in Medicine Open

ISSN: 2949-7744 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Science: Biology (General): Genetics; Medicine
Website: https://www.sciencedirect.com/journal/genetics-in-medicine-open

About the journal