Varaico: Literature-Extracted Genetic Variants

Gene:AKAP13
Variant:p.T837M
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AKAP13

NM_007200.5:p.T837M

Associated Papers

Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation.

Lucas C et al.

The Journal of Clinical Investigation, 2023

36538378 (PubMed )
Supplement: jci-133-164915-s007.pdf

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.

Gordon DM et al.

Plos Genetics, 2022

35737725 (PubMed )
Supplement: pgen.1010236.s001.docx
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