Exon 21 was replaced with one in which an A to G point transition results in the replacement of lysine with arginine at position 454 (K454R). An FRT flanked neo cassette was inserted downstream of the modified exon. (J:165360)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count