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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EFNB1

Variant:p.C22*

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EFNB1

NM_004429.5:p.C22*

hg38:chrX:68829842 C>A

Associated Papers

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.

Wieland I et al.

Clinical Genetics, 2007

17941886 (PubMed )

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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."