Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement (Q21183963)
Appearance
scientific article
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | No label defined |
||
| English | Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement |
scientific article |
Statements
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement (English)
0 references
1 reference
Hakon Hakonarson
Hakon
Hakonarson
1 reference
1 reference
1 reference
Gholson J
Lyon
Gholson J Lyon
1 reference
1 reference
Frederick G
Otieno
Frederick G Otieno
1 reference
1 reference
1 reference
Jonathan Bradfield
1 reference
Yunfei Guo
1 reference
Christopher Cardinale
1 reference
2013
0 references
5
0 references
7
0 references
67
0 references