Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L175P
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MEN1

NM_001370259.2:p.L175P

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

Well-differentiated G1 and G2 pancreatic neuroendocrine tumors: a meta-analysis of published expanded DNA sequencing data.

Andersen KØ et al.

Frontiers in Endocrinology, 2024

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.

Caswell RC et al.

Genome Medicine, 2022

35869530 (PubMed )
Supplement: 13073_2022_1082_MOESM1_ESM.xlsx › Additional_file_1

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1.

Caswell RC et al.

Journal of the Endocrine Society, 2019

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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."