Varaico: Literature-Extracted Genetic Variants

Gene:KDM6B
Variant:p.P482S
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KDM6B

NM_001348716.2:p.P482S

Associated Papers

XAF1 as a modifier of p53 function and cancer susceptibility.

Pinto EM et al.

Science Advances, 2020

32637605 (PubMed )
Supplement: aba3231_Table_S1.xlsx › Table_S1

Characterizing rare and low-frequency height-associated variants in the Japanese population.

Akiyama M et al.

Nature Communications, 2019

31562340 (PubMed )
Supplement: 41467_2019_12276_MOESM9_ESM.xlsx › Supplementary_Data_7

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
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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."