Article

SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia

2023-03-02

Abstract excerpt

<title>Abstract</title> <p>We previously reported a fetus with Fanconi anemia (FA), complementation group O due to compound heterozygous variants involving <italic>RAD51C</italic>. Interestingly, the trio exome sequencing analysis also detected eight apparent de novo mosaic variants with variant allele fraction (VAF) ranging between 11.5%-37%. Here, using whole genome sequencing and a 'home-brew' variant filterin...

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Literature Corpus work: f940a7ab-c074-5dcd-baf9-3f53c5805b7c
DOI: 10.21203/rs.3.rs-2628288/v1

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