PubMed:20106987 / 850-1065
Annnotations
PubTator4TogoVar
| Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
|---|---|---|---|---|---|
| 20106987_1 | 152-157 | ProteinMutation | denotes | E624K | rs387906607 |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T7 | 0-215 | Sentence | denotes | In contrast to expectations based on the clinical severity of these two patients, secretion and assembly of collagen VI were moderately affected by the E624K mutation but severely impaired by the R876S substitution. |