Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E30delFs
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MEN1

NM_001370259.2:p.E30delFs

Associated Papers

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.

Kim B et al.

Endocrinology and Metabolism (seoul, Korea), 2024

39552147 (PubMed )
Supplement: enm-2024-2008-Supplemental-Table-S1.pdf

Alternative splicing generates isoform diversity in MEN1.

Ramachandran A et al.

Endocrine Oncology (bristol, England), 2024

39649118 (PubMed )
Supplement: supplementary_table_3.xlsx › Supplementary_Table_3

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.

Cuny T et al.

European Journal of Endocrinology, 2013

Familial isolated pituitary adenomas: an emerging clinical entity.

Martucci F et al.

Journal of Endocrinological Investigation, 2012

High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.

Tichomirowa MA et al.

European Journal of Endocrinology, 2011

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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."