Sequences TCTATCCAGCTCCCAT and AGGTGACCCGACAAGGA in exon 2 were targeted using TALEN technology, resulting in the deletion of a single A nucleotide from codon 4 (histidine CAC). Immnuoblotting confirmed the near-absence of peptide expression from this allele. (J:302698)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count