Exinct

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In genetics, exinct (short for "extended inhibitory context") is a mutation(?). It was first described by Singh and coworkers to define a negative sequence within the coding region of SMN2 gene.^[1]^[2]^[3] Thanks to presence of Exinct, SMN2 gene is not able to produce the normal protein. In fact, Exinct causes aberrant splicing of exon 7, leading to the production of a short SMN transcript that makes a truncated non-functional SMN protein. Inability of SMN2 to make the full-length protein causes spinal muscular atropy, a debalitating disease of children and infant.