Cargando…
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants
Twenty-one human genes encode connexins, a family of homologous proteins making gap junction (GJ) channels, which mediate direct intercellular communication to synchronize tissue/organ activities. Genetic variants in more than half of the connexin genes are associated with dozens of different Mendel...
Autores principales: | Bai, Donglin, Wang, Jiayi, Li, Tianhe, Chan, Ryan, Atalla, Mena, Chen, Robert C., Khazaneh, Mohammad T., An, Raphael J., Stathopulos, Peter B. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8346055/ https://www.ncbi.nlm.nih.gov/pubmed/34360596 http://dx.doi.org/10.3390/ijms22157832 |
Ejemplares similares
-
Mitochondrial DNA variation across 56,434 individuals in gnomAD
por: Laricchia, Kristen M., et al.
Publicado: (2022) -
Variant interpretation using population databases: Lessons from gnomAD
por: Gudmundsson, Sanna, et al.
Publicado: (2021) -
Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database
por: Rajcsanyi, Luisa Sophie, et al.
Publicado: (2022) -
Analysis of coding variants in the human FTO gene from the gnomAD database
por: Souza Junior, Mauro Lúcio Ferreira, et al.
Publicado: (2022) -
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns
por: Gold, Nina B., et al.
Publicado: (2021)