Varaico: Literature-Extracted Genetic Variants

Gene:PFKL
Variant:p.A2T
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PFKL

NM_002626.6:p.A2T

Associated Papers

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.

Menzel O et al.

Human Mutation, 2004

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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."