Shweta S. Rao, BAMS, PGDCR, MPH, CHW channels years of expertise into her work with Sewa International

Here, we highlight the case of a 31-yr-old man who had clinical features of primary hypertrophic osteoarthropathy (PHOAR) and harbored a homozygous variant (c.38C > A, p.Ala13Glu) in the HPGD gene, as indicated by whole-exome sequencing (WES). This variant has been previously classified by our laboratory as a variant of uncertain significance (VUS). However, another patient with the same phenotype and the same homozygous variant in HPGD was subsequently reported. In reassessing the variant, the absence of this variant in the gnomAD population database, supporting computational predictions, observation in homozygosity in two probands, and specificity of the phenotype for HPGD, all provide sufficient evidence to reclassify the HPGD c.38C > A, p.Ala13Glu variant as likely pathogenic.

Fees (in INR)IT, Operations Management, Business Analytics, Marketing, HR, etc."What is more valuable, an MBA or a PGDM?" This question has long caused consternation among management candidates. Both the Master of Business Administration (MBA Full Form) and the Post Graduate Diploma

T.A. Pai Management Institute(TAPMI), Manipal has opened admissions for its two-year full-time Post-Graduate Diploma in Management (PGDM) programme 2018. PGDM Admissions The programme is approved by All India Council for Technical Education (AICTE). Aspirants can check out the full details of

IEEE / Institute of Electrical and Electronics Engineers Incorporated