Nucleotide substitutions in the open reading frame TAC to GGC produced the amino acid substitution of tyrosine with alanine at position 53 (Y53A). An FRT-flanked neomycin resistance cassette was inserted downstream of the modified coding region. (J:294660)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count