Varaico: Literature-Extracted Genetic Variants

Gene:FREM2
Variant:p.R535C
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FREM2

NM_207361.6:p.R535C

Associated Papers

Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study.

Gao Z et al.

American Journal of Obstetrics and Gynecology, 2026

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

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

Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.

Chen H et al.

Biology of Sex Differences, 2024

Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas.

Kantaputra PN et al.

Diagnostics (basel, Switzerland), 2023

Genomic Analysis of Korean Patient With Microcephaly.

Lee J et al.

Frontiers in Genetics, 2020

33584783 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_3
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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."