Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome

The LARP7 gene encodes a chaperone protein of the noncoding RNA 75 K, and mutations in this gene have been identified in patients with Alazami syndrome. Herein, we report another Japanese patient with Alazami syndrome and novel compound heterozygous variants in LARP7 (i.e., c.370delG, p.Glu124fs*38...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Dateki, Sumito, Kitajima, Tasuku, Kihara, Toshiharu, Watanabe, Satoshi, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2018
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5874394/
https://ncbi.nlm.nih.gov/pubmed/29619239
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2018.14
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