Varaico: Literature-Extracted Genetic Variants

Gene:PRAMEF2
Variant:p.W170*
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PRAMEF2

NM_023014.1:p.W170*

Associated Papers

Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees.

Wang Y et al.

Npj Genomic Medicine, 2026

41605952 (PubMed )
Supplement: 41525_2025_539_MOESM1_ESM.pdf

Tumor mutation burden and recurrent tumors in hereditary lung cancer.

Hsu YC et al.

Cancer Medicine, 2019

30941903 (PubMed )
Supplement: CAM4-8-2179-s001.xlsx › S2
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