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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Dateki, Sumito, Kitajima, Tasuku, Kihara, Toshiharu, Watanabe, Satoshi, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2018
Assuntos:
Data Report
Acesso em linha: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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