Varaico: Literature-Extracted Genetic Variants

Gene:ZGRF1
Variant:p.L48M
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ZGRF1

NM_018392.5:p.L48M

Associated Papers

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.

Wayhelova M et al.

Orphanet Journal of Rare Diseases, 2024

38321498 (PubMed )
Supplement: 13023_2024_3056_MOESM5_ESM.xlsx › All_variants

Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.

Bui DT et al.

Scientific Reports, 2024

Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer's disease.

Zhaoxia W et al.

Molecular Biology Reports, 2023

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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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."