Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance
Abstract Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle metabolism characterized by generalized muscle rigidity, increased body temperature, rhabdomyolysis, hyperkalemia and severe metabolic acidosis. The underlying mechanism of MH involves excessive Ca2+ release from m...
Guardado en:
Autores principales: | Kerstin Hoppe, Karin Jurkat-Rott, Stefanie Kranepuhl, Scott Wearing, Sebastian Heiderich, Sonja Merlak, Werner Klingler |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/dc483e7be68a43b397567e7004957a46 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
High-throughput functional evaluation of BRCA2 variants of unknown significance
por: Masachika Ikegami, et al.
Publicado: (2020) -
Biological relevance of computationally predicted pathogenicity of noncoding variants
por: Li Liu, et al.
Publicado: (2019) -
Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study
por: Joo Heung Kim, et al.
Publicado: (2021) -
New relevance and significance measures to replace p-values.
por: Werner A Stahel
Publicado: (2021) -
Additive effects of variants of unknown significance in replication repair-associated DNA polymerase genes on mutational burden and prognosis across diverse cancers
por: Lin Yang, et al.
Publicado: (2021)