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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… Expand
2019
2019
Recessive mutations in PYROXD1, encoding an oxidoreductase, were recently reported in families with congenital myopathy or limb… Expand
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2018
2018
Next generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to… Expand
2018
2018
ObjectiveTo describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has… Expand
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Review
2018
Review
2018
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal… Expand
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2018
2018
Abstract Background Meishan is a pig breed indigenous to China and famous for its high fecundity. The traits of Meishan are… Expand
2018
2018
Next-generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to… Expand
2017
2017
Background: Bone metastasis is common in different cancers, and increases morbidity and mortality. The goals of this study were… Expand
2016
2016
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and… Expand
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Highly Cited
2006
Highly Cited
2006
Adult male germ cell tumors (GCTs) comprise distinct groups: seminomas and nonseminomas, which include pluripotent embryonal… Expand
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