Associated Papers
Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.
Xu A et al.
International Journal of Laboratory Hematology, 2023
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
Khan AO et al.
Clinical Genetics, 2018
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