Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.
Genet Med
; 22(7): 1269-1275, 2020 07.
Article
in En
| MEDLINE
| ID: mdl-32366967
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Exome
/
Missed Diagnosis
Type of study:
Diagnostic_studies
/
Guideline
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Genet Med
Journal subject:
GENETICA MEDICA
Year:
2020
Type:
Article
Affiliation country:
United States