Varaico: Literature-Extracted Genetic Variants

Gene:PML
Variant:p.F645L
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PML

NM_033238.3:p.F645L

Associated Papers

Sustained HIV-1 remission after heterozygous CCR5Δ32 stem cell transplantation.

Gaebler C et al.

Nature, 2026

41326734 (PubMed )
Supplement: 41586_2025_9893_MOESM5_ESM.xlsx › filtered_HIV_CD4_binding_putati

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Fine mapping of candidate effector genes for heart rate.

Ramírez J et al.

Human Genetics, 2024

The Paget's disease of bone risk gene PML is a negative regulator of osteoclast differentiation and bone resorption.

Wani S et al.

Disease Models & Mechanisms, 2022

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.

Vujkovic M et al.

Nature Genetics, 2020

32541925 (PubMed )
Supplement: NIHMS1589535-supplement-1589535_Supp_Tab1-26.xlsx › T13

Clinical and Genetic Advances in Paget's Disease of Bone: a Review.

Alonso N et al.

Clinical Reviews in Bone and Mineral Metabolism, 2017

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Lu C et al.

Cold Spring Harbor Molecular Case Studies, 2016

27148581 (PubMed )
Supplement: supp_2.1.a000687_Supp_Table_2.xlsx › germline.missense

Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

Rawal RM et al.

3 Biotech, 2015

28324520 (PubMed )
Supplement: 13205_2014_267_MOESM1_ESM.xlsx › WH

Genetics of Paget's disease of bone.

Albagha OM

Bonekey Reports, 2015

Genetics of Paget's disease of bone.

Ralston SH et al.

Current Osteoporosis Reports, 2014

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

Albagha OM et al.

Nature Genetics, 2011

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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."