Varaico: Literature-Extracted Genetic Variants

Gene:ADCY6
Variant:p.R1116C
Back to variants list

ADCY6

NM_015270.5:p.R1116C

Associated Papers

Targeting Adenylate Cyclase Family: New Concept of Targeted Cancer Therapy.

Guo R et al.

Frontiers in Oncology, 2022

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.

Agolini E et al.

Clinical Genetics, 2020

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Laquérriere A et al.

Human Molecular Genetics, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."