CRISPR-targeting of exon 2 produced a partial deletion of exon 2 and intron 2. Both the short and long isoforms are deleted. Western blot analysis confirmed the absent of protein expression. (J:298518)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count