Genetics in Medicine Open (Jan 2024)

P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family

Kanika Parashar,
Kristen Wigby,
Annette Feigenbaum,
Miguel Del Campo

Affiliations

Kanika Parashar: UCSD
Kristen Wigby: UC Davis
Annette Feigenbaum: UCSD
Miguel Del Campo: UCSD

Journal volume & issue: Vol. 2
p. 101364

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