Publication | Open Access
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
42
Citations
19
References
2020
Year
Clinical LanguageGenetic DisorderMedicineGeneticsDifferential DiagnosisDiagnosisPathologyMissed DiagnosesGenomicsAlternative TranscriptsMolecular DiagnosticsVariant InterpretationClinical Genetics
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