Associated Papers
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.
Joshi G et al.
Journal of Medical Genetics, 2023
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.
George M et al.
Human Mutation, 2021
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
Dursun A et al.
Jimd Reports, 2011
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