Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.R66fs
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EFNB1

NM_004429.5:p.R66fs

Associated Papers

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

Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.

Howaldt A et al.

Journal of Human Genetics, 2019

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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."