Sequencing genomic DNA from the open reading frame revealed a C to A transversion that would result in a protein truncated at the carboxyl-terminal end. (J:85398)
Basic Information
Chemically and radiation induced
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count