Varaico: Literature-Extracted Genetic Variants

Gene:PDE1C
Variant:p.S505G
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PDE1C

NM_001191057.4:p.S505G

Associated Papers

Muscle AMP deaminase activity was lower in Neandertals than in modern humans.

Macak D et al.

Nature Communications, 2025

40640132 (PubMed )
Supplement: 41467_2025_61605_MOESM1_ESM.pdf

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL5__PON_in_red_

APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Roper N et al.

Cell Reports, 2019

30840888 (PubMed )
Supplement: NIHMS1523294-supplement-6.xlsx › RA003_P
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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."