Varaico: Literature-Extracted Genetic Variants

Gene:PAM
Variant:p.V49L
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PAM

NM_001177306.2:p.V49L

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

37388215 (PubMed )
Supplement: DataSheet_2.xlsx › Patients_PAM_screening

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
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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."