Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.P281L
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PTEN

NM_000314.8:p.P281L

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

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Kanavy DM et al.

Genome Medicine, 2019

31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S8_PAH_A

LKB1 mutations are extremely rare in Korean non-small cell lung cancers.

Kim MJ et al.

Cancer Genetics and Cytogenetics, 2010

LKB1 gene mutations in Japanese lung cancer patients.

Onozato R et al.

Cancer Science, 2007

Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.

Cohen MM

American Journal of Medical Genetics. Part A, 2003

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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."