Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.R244Q
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EFHC1

NM_018100.4:p.R244Q

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic

The diagnostic yield of CGH and WES in neurodevelopmental disorders.

Alotibi RS et al.

Frontiers in Pediatrics, 2023

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