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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPRED1

Variant:p.Y82*

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SPRED1

NM_152594.3:p.Y82*

hg38:chr15:38322279 T>A

Associated Papers

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

Pagnamenta AT et al.

Clinical Case Reports, 2016

27761245 (PubMed )

Supplement: CCR3-4-0952-s001.docx

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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."