Identification of a mutation in a Vietnamese family with autosomal dominant polycystic kidney disease using whole exome sequencing

Chapter 064. The Practice of Genetics in Clinical Medicine (Part 5)

6 p | 98 | 7

Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer

15 p | 5 | 2

FIREVAT: Finding reliable variants without artifacts in human cancer samples using etiologically relevant mutational signatures

17 p | 2 | 2

Identification of NTRK3 as a potential prognostic biomarker associated with tumor mutation burden and immune infiltration in bladder cancer

13 p | 6 | 2

The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location

10 p | 12 | 2

Identification of p.HIS119LEU mutation in the G6PC gene of a Vietnamese patient with glycogen storage disease type Ia

8 p | 13 | 1

Identification of a metastatic lung adenocarcinoma of the palate mucosa through genetic and histopathological analysis: A rare case report and literature review

7 p | 9 | 1

Profile of cystic fibrosis in a single referral center in Egypt

6 p | 23 | 1

Simultaneous identification of 36 mutations in KRAS codons 61and 146, BRAF, NRAS, and PIK3CA in a single reaction by multiplex assay kit

9 p | 18 | 1