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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EFNB1

Variant:p.P196delFs

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EFNB1

NM_004429.5:p.P196delFs

hg38:chrX:68840043 GC>G

Associated Papers

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

Twigg SR et al.

American Journal of Human Genetics, 2006

16685650 (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."