Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family. [electronic resource]
Producer: 20210524Description: 241-246 p. digitalISSN:- 1573-7292
- Adult
- Child, Preschool
- Exons
- Fanconi Anemia -- diagnosis
- Fanconi Anemia Complementation Group N Protein -- genetics
- Fatal Outcome
- Female
- Fertilization in Vitro -- methods
- Frameshift Mutation
- Genetic Testing -- methods
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Introns -- genetics
- Male
- Parents
- Preimplantation Diagnosis -- methods
- RNA, Messenger -- analysis
- Exome Sequencing -- methods
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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