Varaico: Literature-Extracted Genetic Variants

Gene:GMPR
Variant:p.F256I
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GMPR

NM_006877.4:p.F256I

Associated Papers

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-BH-A0E2-01A.domain

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Arking DE et al.

Nature Genetics, 2014

Jannovar: a java library for exome annotation.

Jäger M et al.

Human Mutation, 2014

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s010.xlsx › all_omim_evidence.csv

Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.

Shatunov A et al.

Brain : a Journal of Neurology, 2006

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