Varaico: Literature-Extracted Genetic Variants

Gene:PIP5KL1
Variant:p.G127S
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PIP5KL1

NM_001135219.2:p.G127S

Associated Papers

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Accogli A et al.

Neurology. Genetics, 2017

28815207 (PubMed )
Supplement: supp_3.5.e179_Table_e-3.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."