Additional file 1: Table S1. of A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy
Zuhair Al-Hassnan
Zarghuna Shinwari
Salma Wakil
Sahar Tulbah
Shamayel Mohammed
Zuhair Rahbeeni
Mohammed Alghamdi
Monther Rababh
Dilek Colak
Namik Kaya
Majid Al-Fayyadh
Jehad Alburaiki
10.6084/m9.figshare.c.3606797_D1.v1
https://springernature.figshare.com/articles/journal_contribution/Additional_file_1_Table_S1_of_A_substitution_mutation_in_cardiac_ubiquitin_ligase_FBXO32_is_associated_with_an_autosomal_recessive_form_of_dilated_cardiomyopathy/4349804
Forty-eight OMIM genes implicated in dilated and hypertrophic familial cardiomyopathy that were screened for all the homozygous variants detected by whole exome sequencing. All of the identified 62 variants have been previously reported in the dbSNP and/or 1000 Genomes databases as polymorphisms, except for two novel variants in TNN and SGCD genes, which were found to be intronic. (DOCX 17Â kb)
2016-01-14 05:00:00
Cardiomyopathy
FBXO32
Ubiquitin proteasome system