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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CKAP4

Variant:p.S576insFs

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CKAP4

NM_006825.4:p.S576insFs

hg38:chr12:106239106 G>GA

Associated Papers

Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.

Sawardekar SS et al.

Pediatric Dermatology, 0

20738799 (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."