This has contributed to addressing the question of missing heritabilitywhile rare pathogenic variants explain a portion of a trait, adding the modest impact of common variants helps account for the unexplained heritability observed in many conditions
Guarino MP, Afonso RA, Raimundo N, Raposo JF, Macedo MP
[3] In humans, defects in GSS are inherited in an autosomal recessive way and are the cause of severe metabolic acidosis, 5-oxoprolinuria, increased rate of haemolysis, and defective function of the central nervous system
Thus, the scarce human studies performed so far, regardless of all of the limitations in some of them (i.e., they lacked a large sample size, ethnic variation, and a sham control group), encompassed a wide range of investigations (i.e., ulcerative colitis [65], knee pain [263], and interstitial cystitis [264])
In majority of cases, drought stress led to an increase in the activity of enzymes of AsA-GSH cycle (Reddy et al., 2004