Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.M1V
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RET

NM_020975.6:p.M1V

Associated Papers

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.

Gheorghe AM et al.

International Journal of Molecular Sciences, 2024

Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review.

Kumar S et al.

Endocrine Connections, 2021

34662294 (PubMed )
Supplement: supplementary_table_3.pdf

Germline DNA Sequencing Reveals Novel Mutations Predictive of Overall Survival in a Cohort of Patients with Pancreatic Cancer.

Goldstein JB et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020

Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Ma X et al.

Frontiers in Endocrinology, 2020

Hereditary angioedema in Greek families caused by novel and recurrent mutations.

Speletas M et al.

Human Immunology, 2009

[Lump in the neck: 4 patients with a medullary thyroid carcinoma].

Jansen M et al.

Nederlands Tijdschrift Voor Geneeskunde, 2001

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

Urbán Z et al.

Human Genetics, 2000

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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."