Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L129delFs
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MEN1

NM_001370259.2:p.L129delFs

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

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Carvalho RA et al.

European Journal of Endocrinology, 2018

MEN1 mutations and potentially MEN1-targeting miRNAs are responsible for menin deficiency in sporadic and MEN1 syndrome-associated primary hyperparathyroidism.

Grolmusz VK et al.

Virchows Archiv : an International Journal of Pathology, 2017

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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."