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PYROXD1 gene

Known as: PYRIDINE NUCLEOTIDE-DISULFIDE OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1, PYROXD1, DKFZp762G094 
National Institutes of Health

Papers overview

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2020
2020
Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early‐onset autosomal recessive myopathy… 
2019
2019
Recessive mutations in PYROXD1, encoding an oxidoreductase, were recently reported in families with congenital myopathy or limb… 
2018
2018
ObjectiveTo describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has… 
2018
2018
Next generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to… 
Review
2018
Review
2018
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal… 
2018
2018
Abstract Background Meishan is a pig breed indigenous to China and famous for its high fecundity. The traits of Meishan are… 
2018
2018
Next-generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to… 
2011
2011
6 paginas, 3 tablas.-- Trabajo presentado a la 50a Reunion Cientifica de la Sociedad Espanola para el Estudio de los Pastos… 
Highly Cited
2006
Highly Cited
2006
Adult male germ cell tumors (GCTs) comprise distinct groups: seminomas and nonseminomas, which include pluripotent embryonal…