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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIP5K1A

Variant:p.S23Y

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PIP5K1A

NM_001135638.2:p.S23Y

hg38:chr1:151199064 C>A

Associated Papers

Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa.

Li L et al.

Oncotarget, 2017

28199965 (PubMed )

Supplement: oncotarget-08-19914-s001.pdf

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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."