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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPHKAP

Variant:p.E877_S878delFs

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SPHKAP

NM_001142644.2:p.E877_S878delFs

hg38:chr2:228018220 ACTCTC>A

Associated Papers

Whole-Exome Sequencing Identifies Damaging de novo Variants in Anencephalic Cases.

Wang L et al.

Frontiers in Neuroscience, 2019

31849593 (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."