Varaico: Literature-Extracted Genetic Variants

Gene:FREM1
Variant:p.D1092Splc
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FREM1

NM_001379081.2:p.D1092Splc

Associated Papers

Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses.

Zhang N et al.

Genes, 2026

Non-Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis.

Feng X et al.

Clinical Genetics, 2026

Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).

Koenigbauer JT et al.

Archives of Gynecology and Obstetrics, 2024

Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.

Wang C et al.

Bmc Genomics, 2023

37501076 (PubMed )
Supplement: 12864_2023_9505_MOESM1_ESM.xlsx › Summary
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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."