Exact(1)
Interestingly, individual (II-3) who harbors only the novel variant showed normal kidney volume and function but had a total of 7 renal cysts at the age of 58 (Table 2 and Figure 3A and B).
Similar(59)
Upon depletion of wt Mdj1 from cells, the rate of loss of respiratory capacity of variants lacking J-domain function mirrored that of cells expressing no Mdj1, even though these variants showed normal association with nucleoids.
One variant-positive case showed normal leucocyte DNA; this is the sole false-positive case.
A variant that strengthened the natural site and showed normal or increased levels of the wild-type isoform, consistent with it having a benign phenotype and/or polymorphic; d.
Echocardiograms showed normal heart activity.
Ultrasonography showed normal ovaries.
All of them showed normal values.
Repeated electrocardiograms showed normal.
In this study, 3 clade 2.3.4 viruses carrying variant I223T were reported to show normal inhibition by NA inhibitors because of the relatively high median IC50 values of this clade.
The other patient carrying both the variant and mutation (III-7) although showing normal kidney functions at the age of 25 (eGFR 91 mL/min/1.73 m2), his kidneys were also extremely enlarged (htTKV 1344.1 cc/m) in comparison to patients in the same age group carrying only the (p.Q2243X) mutation (III-2 and III-3) (Table 2 and Figure 3A).
Biopsy of small intestine showing normal villi.
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