Exon 21 (or exon 18 depending on transcript) 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 inserted downstream of the modified exon 21 was removed by flp mediated recombination. (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