Varaico: Literature-Extracted Genetic Variants

Gene:EPHB4
Variant:p.C253insFs
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EPHB4

NM_004444.5:p.C253insFs

Associated Papers

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Mellis R et al.

Bjog : an International Journal of Obstetrics and Gynaecology, 2022

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.

Martin-Almedina S et al.

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

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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."