Varaico: Literature-Extracted Genetic Variants

Gene:STK36
Variant:p.R839Q
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STK36

NM_015690.5:p.R839Q

Associated Papers

Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.

Manoubi W et al.

World Journal of Clinical Cases, 2024

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.

Nazarenko MS et al.

International Journal of Molecular Sciences, 2022

36012502 (PubMed )
Supplement: ijms-23-09234-s001.zip › Supplementary_Files › Supplementary_Table_S1.xlsx › Variants__A_and_B_category

The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Muscat AM et al.

Oncotarget, 2018

29487696 (PubMed )
Supplement: oncotarget-09-7844-s003.xlsx › Supplementary_Table_S2

Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.

Zahid M et al.

Plos One, 2018

29444099 (PubMed )
Supplement: pone.0191605.s014.xlsx › PCDMutationsTGAPatients
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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."