Since pathogenic variants
of SH3TC2, PMP2 , and BSCL2 were not well documented in Chinese CMT patients, this study aims to screen for pathogenic variants
of these three genes in a cohort of Chinese CMT patients and describe the clinical features of patients carrying pathogenic variants
Criteria for Variant
Filtering and Selection for Review
We are delighted to have the opportunity to make this contribution of curated variants
to ClinVar, and to support the program in improving the accuracy of shared genomic knowledge.
Avni Santani: Variant
curation and a preliminary variant
assertion are performed by a team of board-certified genetic counselors, postdoctoral fellows/trainees, and PhD-level scientists.
The scientists found three genetic variants
associated with "subjective wellbeing" - how happy or satisfied a person reports feeling about his or her life - based on an analysis of roughly 300,000 people.
Experts in this process say that this interpretation process takes about 30 minutes for each novel variant
, a couple of hours for variants
that have been reported in the literature, and many days for the most complicated cases.
Previously, Samsung has released its flagship Galaxy models in two CPU variants
and now the South Korean tech giant is expected to do same with Galaxy Note 4.
common enough to appear in 5 percent or more of the population is probably more than 10,000 years old, says Alon Keinan, a computational biologist and human population geneticist at Cornell University.
Major Finding: The most common variant
of a key protein regulating cells' insulin receptors was found in 7.
Another modified variant
had Z-shaped pressed sheet metal braces positioned along the longitudinal axis of the girder.
Possession of a high-risk MC1R variant
such as D84E, D29H, R160W, or R151C was associated with an overall 1.
People with this gene variant
have some resistance to HIV infection and take longer to develop AIDS.