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

We previously reported a fetus with Fanconi anemia (FA), complementation group O due to compound heterozygous variants involving RAD51C. Interestingly, the trio exome sequencing analysis also detected eight apparent de novo mosaic variants with variant allele fraction (VAF) ranging between 11.5%−37%...

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Detalles Bibliográficos
Autores principales: Zemet, Roni, Du, Haowei, Gambin, Tomasz, Lupski, James R, Liu, Pengfei, Stankiewicz, Paweł
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Journal Experts 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002829/
https://www.ncbi.nlm.nih.gov/pubmed/36909564
http://dx.doi.org/10.21203/rs.3.rs-2628288/v1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002829/
https://www.ncbi.nlm.nih.gov/pubmed/36909564
http://dx.doi.org/10.21203/rs.3.rs-2628288/v1

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