Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal expansion and disproportionate variant sperm production leading to unexpectedly high transmission rates for some human genetic conditions. To measure the frequency and spatial distribution of de novo mutatio...

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Detalles Bibliográficos
Autores principales: Eboreime, Jordan, Choi, Soo‐Kyung, Yoon, Song‐Ro, Sadybekov, Anastasiia, Katritch, Vsevolod, Calabrese, Peter, Arnheim, Norman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099774/
https://www.ncbi.nlm.nih.gov/pubmed/36349709
http://dx.doi.org/10.1002/humu.24493

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099774/
https://www.ncbi.nlm.nih.gov/pubmed/36349709
http://dx.doi.org/10.1002/humu.24493

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