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GenomicsTHAP11 mutations in a patient with a cblX-like phenotype implicates THAP11 in the regulation of cobalamin metabolism and early vertebrate development
Mutations in HCFC1 are associated with cblX (MIM309541), an X-linked recessive disorder, characterized by defects in cobalamin metabolism and other developmental defects. HCFC1 is a transcriptional co-regulator, which interacts with transcription factors to regulate the expression of a myriad of gen...
EGAS00001002201 | EGA
Genomicsena-DATASET-MCGILL-EDCC-12-01-2017-18:11:29:150-25 - samples
RNA sequencing of 31 patient-derived fibroblast cell lines from patients with inborn errors of cobalamin (vitamin B12) metabolism, and 7 control samples. The RNA seq library was prepared using the TruSeq Stranded Total RNA Sample Preparation Kit (Illumina RS-122–2301) including Ribo-Zero Gold deplet...
EGAD00001003142 | EGA
GenomicsChildren's Hospital of Philadelphia (CHOP) Control Copy Number Variation (CNV) Study

We present a database of copy number variations (CNVs) detected in 2,026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort analyzed for CNVs in a single study using a uniform array platform and computational tools, comprises mainly of Cau...

phs000199.v1.p1 | EGA
UnknownImpact of COVID-19 in patients on active melanoma therapy and with history of melanoma.
Not available
S-EPMC10033295 | biostudies-literature
UnknownAssociation of Convalescent Plasma Therapy With Survival in Patients With Hematologic Cancers and COVID-19.
Not available
S-EPMC8377563 | biostudies-literature
UnknownAssessment of Regional Variability in COVID-19 Outcomes Among Patients With Cancer in the United States.
Not available
S-EPMC8728628 | biostudies-literature
UnknownInterplay of Immunosuppression and Immunotherapy Among Patients With Cancer and COVID-19.
Not available
S-EPMC9634600 | biostudies-literature
UnknownSystemic Anticancer Therapy and Thromboembolic Outcomes in Hospitalized Patients With Cancer and COVID-19.
Not available
S-EPMC10436185 | biostudies-literature
UnknownEfficacy and Safety of NVX-CoV2373 in Adults in the United States and Mexico.
Not available
S-EPMC8693692 | biostudies-literature
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