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Titel:

Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.

Dokumenttyp:
Article; Journal Article
Autor(en):
Brunet, Theresa; Berutti, Riccardo; Dill, Veronika; Hecker, Judith S; Choukair, Daniela; Andres, Stephanie; Deschauer, Marcus; Diehl-Schmid, Janine; Krenn, Martin; Eckstein, Gertrud; Graf, Elisabeth; Gasser, Thomas; Strom, Tim M; Hoefele, Julia; Götze, Katharina S; Meitinger, Thomas; Wagner, Matias
Abstract:
Clonal hematopoiesis because of somatic mutations in hematopoietic stem/progenitor cells is an age-related phenomenon and commonly observed when sequencing blood DNA in elderly individuals. Several genes that are implicated in clonal hematopoiesis are also associated with Mendelian disorders when mutated in the germline, potentially leading to variant misinterpretation. We performed a literature search to identify genes associated with age-related clonal hematopoiesis followed by an OMIM query t...     »
Zeitschriftentitel:
Hum Mol Genet
Jahr:
2022
Band / Volume:
31
Heft / Issue:
14
Seitenangaben Beitrag:
2386-2395
Volltext / DOI:
doi:10.1093/hmg/ddac034
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35179199
Print-ISSN:
0964-6906
TUM Einrichtung:
Institut für Humangenetik; Klinik und Poliklinik für Innere Medizin III, Hämatologie und Onkologie; Klinik und Poliklinik für Neurologie; Klinik und Poliklinik für Psychiatrie und Psychotherapie
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