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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLCE1

Variant:p.A1765T

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PLCE1

NM_016341.4:p.A1765T

hg38:chr10:94298504 G>A

Associated Papers

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.

Matejas V et al.

Human Mutation, 2010

20556798 (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."