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Description
This would enable physicians to confidently diagnose patients with this disease De-risks other basic science and translational activities that assume pathogenicity of the gene variants Peer-reviewed publications on the validated variants and disease will raise awareness of SSMD How do variations impact protein structure and function

Kombucha: A systematic review of the empirical evidence of human health benefit. Annals of epidemiology 30 (2019): 66-70

Merrill, L., Gonzalez, E

Nature Medicine 21(8):887-894
