Varaico: Literature-Extracted Genetic Variants

Gene:PTPN6
Variant:p.A455T
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PTPN6

NM_002831.6:p.A455T

Associated Papers

Frequency and characteristics of emphysema in adults with FLNA variants: a single-center study.

Michalski A et al.

Orphanet Journal of Rare Diseases, 2025

Mendelian causes of early-onset emphysema: a review of the current literature.

Karabatic A et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2025

SHP-1 phosphatase acts as a coactivator of PCK1 transcription to control gluconeogenesis.

Kumar A et al.

The Journal of Biological Chemistry, 2023

Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?

Hendriks WJAJ et al.

Frontiers in Cell and Developmental Biology, 2022

Early-onset emphysema in a large French-Canadian family: a genetic investigation.

Bossé Y et al.

The Lancet. Respiratory Medicine, 2019

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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."