Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.P281R
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PTEN

NM_000314.8:p.P281R

Associated Papers

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

Pirozzi F et al.

American Journal of Medical Genetics. Part A, 2021

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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."