Varaico: Literature-Extracted Genetic Variants

Gene:FREM3
Variant:p.E243delFs
Back to variants list

FREM3

NM_001168235.2:p.E243delFs

Associated Papers

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Dworschak GC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34054129 (PubMed )
Supplement: EMS128249-supplement-Supplementary_Information.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."