Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.K135delFs
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MEN1

NM_001370259.2:p.K135delFs

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

Genetic testing in prolactinomas: a cohort study.

Boukerrouni A et al.

European Journal of Endocrinology, 2023

Familial pituitary tumor syndromes.

Elston MS et al.

Nature Reviews. Endocrinology, 2009

Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas.

Cazabat L et al.

Hormone Research, 2009

Characteristics of familial isolated pituitary adenomas.

Daly AF et al.

Expert Review of Endocrinology & Metabolism, 2007

Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.

Cazabat L et al.

European Journal of Endocrinology, 2007

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