Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.V99delins
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EFNB1

NM_004429.5:p.V99delins

Associated Papers

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

Howaldt A et al.

Journal of Human Genetics, 2019

A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.

Inoue Y et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2018

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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."