Assessment of paralogue annotation for improving diagnostic accuracy in CALM1, CALM2, and CALM3 genes

The calcium (Ca2+) sensor calmodulin (CaM) genes CALM1, CALM2, and CALM3 were recently included in the American College Medical Genetics and Genomics (ACMG) secondary findings (SF) list, given their significance in causing long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachyca...

Celý popis

Podrobná bibliografie

Hlavní autoři:	Kathryn M. Curry, Amar Mujkic, Natalie Syverud, Anna K. McGill, Jane E. Beckwell, Elizabeth A. Wiley, Jeffrey Bissonnette, Amina Kurtovic-Kozaric, Mark J. Kiel
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2026-07-01
Edice:	Frontiers in Genetics
Témata:	CALM1 CALM2 CALM3 calmodulin paralogue annotation
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fgene.2026.1761341/full
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!