Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.H196insFs
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PTEN

NM_000314.8:p.H196insFs

Associated Papers

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.

Mester JL et al.

European Journal of Human Genetics : Ejhg, 2011

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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."