American_Journal  

Documents (145) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PMC 5142113 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and L 390 Bytes 2021-11-30 1
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PMC 5630189 Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44 (The American Journal of Human Gene 643 Bytes 2021-11-30 1
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PMC 4974105 Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in 1.06 KB 2021-11-30 1
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PMC 6128302 Mutations in TOP3A Cause a Bloom Syndrome-like Disorder (The American Journal of Human Genetics 103 319 Bytes 2021-11-30 1
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PMC 5673670 Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44 (The American Journal of Human Gene 292 Bytes 2021-11-30 1
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PMC 5420355 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disabilit 40 KB 2021-06-04 2
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PMC 4129401 Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy Abstra 45.5 KB 2021-06-04 2
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PMC 4320258 UBE2L3 Polymorphism Amplifies NF-κB Activation and Promotes Plasma Cell Development, Linking Linear 41.8 KB 2021-11-30 2
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PMC 4320255 COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency A 33 KB 2021-11-30 2
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PMC 4320268 Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bip 47 KB 2021-11-30 2
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