Orhan, G. et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
Heterozygous SHANK3 mutations are associated with idiopathic autism and Phelan-McDermid syndrome.
Kim, J. et al. Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors.
These mutations are associated with disorders ranging from genetic blindness to sickle-cell anemia to metabolic disorders to cystic fibrosis.
NLRP3 mutations are associated in an autosomal dominant manner with clinically overlapping auto-inflammatory conditions including Muckle-Wells syndrome.
As many of the post-treatment plasma samples in this study were collected long before clinical recurrence, we cannot conclude that these mutations are associated with therapeutic resistance.
GLIS3 mutations are associated with type 1, type 2, and neonatal diabetes, reflecting a key function for this gene in pancreatic β-cell biology.
RAG1 or RAG2 mutations are associated with defects in V(D J recombination activity, causing severe immunodeficiency with a wide spectrum of clinical phenotypes.
The present genetic study reveals that embryonic myosin heavy chain 3 (mutationsareons associatedated with a spectrum of phenotypes including distal arthrogryposis (DA), MPS and SCT.
CONCLUSION: In PTC, BRAF mutations are associated with cervical recurrence and with reoperation.
BACKGROUND: BRCA1 and BRCA2 germline mutations are associated with an elevated risk for pancreas adenocarcinoma (PAC).
