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Comprehensive Analysis of Genomic Variations in Pancreatic Adenocarcinoma by Race. [PDF]
Cancer MedEl Moheb M +9 more
europepmc +1 more source
Male Breast Cancer in a Bronx Urban Population: A Single-Institution Retrospective Observational Study. [PDF]
Diagnostics (Basel)Lee K +5 more
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The Baraitser-Winter Cerebrofrontofacial Syndrome Recurrent R196H Variant in Cytoplasmic β-Actin Impairs Its Cellular Polymerization and Stability. [PDF]
FASEB JGráczer É +12 more
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Spontaneous Mutation of Hemoglobin Lufkin in a White Boy
Journal of Pediatric Hematology/Oncology, 2009A 10-year-old white boy presented clinically with thalassemia major facies, pallor, jaundice, and hepatomegaly. Investigation revealed the patient has hemoglobin (Hb) Lufkin concurrent with beta(0) thalassemia. DNA sequencing of the beta globin gene confirmed a GGC to a GAC mutation at codon 29 (gly to asp) for Hb Lufkin on the patient and also ...
Peihong, Hsu +5 more
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Vanishing White Matter Disease with Mutations in EIF2B5 Gene
The Indian Journal of Pediatrics, 2014An 18-mo-old girl was brought with complaints of sudden loss of attained milestones after a febrile illness at 13 mo of age. MRI of the brain showed extensive loss of white matter with rarefaction and cystic degeneration; suggestive of vanishing white matter disease. The patient was found to be compound heterozygote for two mutations in the gene EIF2B5;
Suvasini, Sharma +3 more
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