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Delineating the genotypic and phenotypic spectrum of
- Source :
- Journal of medical genetics. 59(7)
- Publication Year :
- 2021
-
Abstract
- Variants inMolecular and clinical data were collected from clinical and research cohorts. Massive parallel sequencing was performed and identified individuals with aWe identified 13 novel missense variants inWe provide a comprehensive review and expansion of the genotypic and phenotypic spectrum of
Details
- ISSN :
- 14686244
- Volume :
- 59
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- Journal of medical genetics
- Accession number :
- edsair.pmid..........9de08ea94e26cd350b69b4c4356e5bd3