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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APAF1

Variant:p.E46K

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APAF1

NM_181861.2:p.E46K

hg38:chr12:98648495 G>A

Associated Papers

Rare mutations in apoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects.

Zhou X et al.

Cell Death & Disease, 2018

29352212 (PubMed )

Supplement: 41419_2017_96_MOESM1_ESM.doc

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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."