Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Author:
Funder
Japan Society for the Promotion of Science
Takeda Science Foundation
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-023-00737-5.pdf
Reference31 articles.
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4. Cheng LC, Baboo S, Lindsay C, Brusman L, Martinez-Bartolome S, Tapia O et al (2019) Identification of new transmembrane proteins concentrated at the nuclear envelope using organellar proteomics of mesenchymal cells. Nucleus-Phila 10(1):126–143. https://doi.org/10.1080/19491034.2019.1618175
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