CRISPR/Cas9 technology changed all nine serine/threonine residues within the conserved C-terminal tail region, common to both the short and long forms, to alanine residues (S381A, S384A, T385A, S388A, T389A, S391A, S392A, S394A, S395A), that are predicted phosphorylation sites. (J:319414)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count