UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference20 articles.
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2. Nosology and classification of genetic skeletal disorders: 2015 revision;Bonafe;Am. J. Med. Genet.,2015
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4. An ER complex of ODR-4 and ODR-8/Ufm1 specific protease 2 promotes GPCR maturation by a Ufm1-independent mechanism;Chen;PLoS Genet.,2014
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4. Familial Infantile spasm syndrome due to biallelic variants in the gene encoding UFM1-specific peptidase 2 (UFSP2);Medical Reports;2023-12
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