Varaico: Literature-Extracted Genetic Variants

Gene:PAM
Variant:p.R190H
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PAM

NM_001177306.2:p.R190H

Associated Papers

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.

Trivellin G et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.

Trivellin G et al.

Frontiers in Endocrinology, 2023

PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas.

De Sousa SMC et al.

Frontiers in Endocrinology, 2023

Mutational profiling of micro-dissected pre-malignant lesions from archived specimens.

Nachmanson D et al.

Bmc Medical Genomics, 2020

33208147 (PubMed )
Supplement: 12920_2020_820_MOESM2_ESM.xlsx › S8_DCIS_Mutations

Disruption of AT-hook 1 domain in MeCP2 protein caused behavioral abnormality in mice.

Xu M et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

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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."