Varaico: Literature-Extracted Genetic Variants

Gene:LYPD1
Variant:p.N35D
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LYPD1

NM_144586.7:p.N35D

Associated Papers

Classification of PTEN germline non-truncating variants: a new approach to interpretation.

Margot H et al.

Journal of Medical Genetics, 2024

PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review.

Rahmatinejad Z et al.

Diagnostic Pathology, 2023

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Post KL et al.

Nature Communications, 2020

32350270 (PubMed )
Supplement: 41467_2020_15943_MOESM4_ESM.xlsx › Supplemental_Table_1

Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.

Driessen GJ et al.

The Journal of Allergy and Clinical Immunology, 2016

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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."