A single base pair change (G-to-C) resulted in a cysteine to serine change at amino acid position 25 (p.C25S). An FRT site flanked neomycin resistance gene cassette was inserted downstream of exon 1. (J:89228)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count