Varaico: Literature-Extracted Genetic Variants

Gene:PITRM1
Variant:p.Q1037R
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PITRM1

NM_014889.4:p.Q1037R

Associated Papers

Validating Amino Acid Variants in Proteogenomics Using Sequence Coverage by Multiple Reads.

Levitsky LI et al.

Journal of Proteome Research, 2022

35536917 (PubMed )
Supplement: pr2c00033_si_002.pdf

Whole-Genome Sequencing Identifies the Egl Nine Homologue 3 (egln3/phd3) and Protein Phosphatase 1 Regulatory Inhibitor Subunit 2 (PPP1R2P1) Associated with High-Altitude Polycythemia in Tibetans at High Altitude.

Gesang L et al.

Disease Markers, 2019

31827636 (PubMed )
Supplement: 5946461.f1.xlsx › Supplementary_Table_S1

Exome-based proteogenomics of HEK-293 human cell line: Coding genomic variants identified at the level of shotgun proteome.

Lobas AA et al.

Proteomics, 2016

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1
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