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The severity of clinical manifestations, evaluated as total score measured at the time of molecular diagnosis, is significantly dependent on age, with it being higher in aging patients; however, it was not related to either type of variant (A) nor to gender (B). Group M = two missense variants; group NF = two sequence variants causing reduced protein production or a protein to be likely non-functional; group M + NF = one missense and one “NF” variant.
