Varaico: Literature-Extracted Genetic Variants

Gene:EBF2
Variant:p.A72V
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EBF2

NM_022659.4:p.A72V

Associated Papers

A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations.

Kim SY et al.

American Journal of Medical Genetics. Part A, 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."