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In conclusion, the typical clinical presentation of MTHFR deficiency includes neurological deterioration and vascular disorders

HT is presently managed with daily thyroxine supplementation to overcome the hypothyroid symptoms

Consequently, most genetic contributions to neurodegenerative phenotypes escape the strict pathogenic/benign dichotomy defined by ACMG, creating a bioinformatic challenge: common variants of small effectand even variants classified as benignmay exert additive influences on phenotype