Varaico: Literature-Extracted Genetic Variants

Gene:CREB3L1
Variant:p.D200V
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CREB3L1

NM_052854.4:p.D200V

Associated Papers

Thrombotic risk determined by CREB3L1 variants in a population-based cohort study: linkage disequilibrium with prothrombin mutation.

Manderstedt E et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK13_het

Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.

Zhou W et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

37076969 (PubMed )
Supplement: JBMR-38-896-s002.xlsx › S.Table3

High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities.

Bloyd M et al.

Frontiers in Endocrinology, 2023

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP et al.

International Journal of Cancer, 2019

30414346 (PubMed )
Supplement: IJC-144-2453-s001.doc
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