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Published in 2021 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2021.05.009
Abstract: Summary Most rare clinical missense variants cannot currently be classified as pathogenic or benign. Deficiency in human 5,10-methylenetetrahydrofolate reductase (MTHFR), the most common inherited disorder of folate metabolism, is caused primarily by rare missense variants.…
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Keywords:
mthfr variant;
variant effects;
missense;
shifting landscapes ... See more keywords