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Academic Journal

A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis.

Subjects: *VASCULITIS; *HOMOZYGOSITY; *GENETIC mutation

  • Source: European Journal of Medical Genetics. Dec2017, Vol. 60 Issue 12, p690-694. 5p.

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Identification of Duplication Genotypes of the Feathering Rate Gene in Chicken by a Multiplex PCR Following Electrophoresis and/or Sanger Sequencing.

Subjects: CHICKEN breeds; POLYMERASE chain reaction; DIAGNOSTIC use of polymerase chain reaction

  • Source: Animals (2076-2615); Mar2023, Vol. 13 Issue 6, p1091, 10p

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Academic Journal

Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.

Subjects: *FANCONI'S anemia; *HOMOZYGOSITY; *BRCA genes

  • Source: Oncology Letters. Jan2016, Vol. 11 Issue 1, p471-473. 3p.

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Academic Journal

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Subjects: DYSPLASIA; MISSENSE mutation; TRANSCRIPTOMES

  • Source: Genome Medicine; 5/30/2024, Vol. 16 Issue 1, p1-18, 18p

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Academic Journal

Cell coupling compensates for changes in single-cell Her6 dynamics and provides phenotypic robustness.

Subjects: TRANSCRIPTION factors; PHENOTYPES; GENE expression

  • Source: Development (09501991); May2024, Vol. 151 Issue 10, p1-17, 17p

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Academic Journal

A novel nonsense mutation found in the CD177 gene of Thai individuals with the HNA‐2 null phenotype.

Subjects: NONSENSE mutation; SINGLE nucleotide polymorphisms; GENETIC mutation

  • Source: Transfusion Medicine. Feb2020, Vol. 30 Issue 1, p30-36. 7p. 1 Black and White Photograph, 2 Charts, 2 Graphs.

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Academic Journal

Gene Dosage of F5 c.3481C>T Stop-Codon (p.R1161Ter) Switches the Clinical Phenotype from Severe Thrombosis to Recurrent Haemorrhage: Novel Hypotheses for Readthrough Strategy.

Subjects: ALTERNATIVE RNA splicing; VENOUS thrombosis; BLOOD coagulationLEIDEN (Netherlands)

  • Source: Genes; Apr2024, Vol. 15 Issue 4, p432, 14p

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Academic Journal

Molecular and Family Analyses of a Novel RHD1058G>C Allele in a Chinese RhD Population.

Subjects: ALLELES; HAPLOTYPES; FAMILIES

  • Source: Clinical Laboratory; 2024, Vol. 70 Issue 3, p614-617, 4p

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Academic Journal

Ethnic Identity and Genome Wide Runs of Homozygosity.

Subjects: ETHNICITY; HOMOZYGOSITY; INGROUPS (Social groups)

  • Source: Behavior Genetics. Jul2021, Vol. 51 Issue 4, p405-413. 9p.

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Academic Journal

Genotype and Phenotype Correlations in Children with Familial Mediterranean Fever.

Subjects: FAMILIAL Mediterranean fever; PHENOTYPES; GENOTYPES

  • Source: Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi; 2015, Vol. 9 Issue 3, p171-175, 5p

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  • 1-10 of  2,132 results for ""Homozygote""