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List of works by Aparna Kamat

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

scientific article published on 2 November 2017

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

scientific article published on 23 April 2013

Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia

scientific article published on 3 February 2016

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

scientific article published on 30 November 2017

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