Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E45A
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MEN1

NM_001370259.2:p.E45A

Associated Papers

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

Investigating the Effects of Amino Acid Variations in Human Menin.

Biancaniello C et al.

Molecules (basel, Switzerland), 2022

35268848 (PubMed )
Supplement: molecules-27-01747-s001.zip › Supplementary-Table-S4.pdf

Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene.

Griniatsos JE et al.

World Journal of Surgical Oncology, 2011

Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.

Ellard S et al.

Clinical Endocrinology, 2005

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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."