Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.R144H
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RET

NM_020975.6:p.R144H

Associated Papers

Rapid recurrence of ovarian mixed sex-cord-stromal tumor associated with DICER1 gene mutation: a case analysis and literature review.

Zhu F et al.

Annals of Medicine and Surgery (2012), 2025

Identifying novel oncogenic RET mutations and characterising their sensitivity to RET-specific inhibitors.

Zhao Z et al.

Journal of Medical Genetics, 2020

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

Widowati T et al.

European Journal of Human Genetics : Ejhg, 2016

The RET51/FKBP52 complex and its involvement in Parkinson disease.

Fusco D et al.

Human Molecular Genetics, 2010

Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients.

Zadra G et al.

Haematologica, 2004

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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."