Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.R156C
Back to variants list

EFNB1

NM_004429.5:p.R156C

Associated Papers

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

Levy M et al.

Prenatal Diagnosis, 2025

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay.

Han JY et al.

Frontiers in Pediatrics, 2020

Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.

Davis AA et al.

Plastic and Reconstructive Surgery. Global Open, 2019

Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation.

Chauhan BK et al.

Plastic and Reconstructive Surgery. Global Open, 2015

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."