Varaico: Literature-Extracted Genetic Variants

Gene:ADCY6
Variant:p.Y992C
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ADCY6

NM_015270.5:p.Y992C

Associated Papers

Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina.

Mathur PD et al.

Scientific Reports, 2023

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

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C et al.

Cell Reports, 2015

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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."