American_Journal  

Documents (145) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
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 6128247 Fetal—Not Maternal—APOL1 Genotype Associated with Risk for Preeclampsia in Those with African Ancest 39.8 KB 2021-02-10 3
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PMC 6117612 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder 32.1 KB 2020-09-16 3
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PMC 6080768 A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause o 24.1 KB 2020-09-16 3
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PMC 6080766 Mutations in TOP3A Cause a Bloom Syndrome-like Disorder Abstract Bloom syndrome, caused by biallel 30.7 KB 2020-09-15 4
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PMC 6037202 Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a B 61.5 KB 2021-02-10 3
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PMC 6037130 De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures Abstract Next-ge 28.9 KB 2020-09-15 3
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PMC 6035289 Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support 48.9 KB 2020-09-15 4
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PMC 5993513 Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophren 55 KB 2021-02-10 3
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PMC 5992133 De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation 24 KB 2020-09-15 4
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