Varaico: Literature-Extracted Genetic Variants

Gene:DGKQ
Variant:p.A24T
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DGKQ

NM_001347.4:p.A24T

Associated Papers

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7

Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.

Diao H et al.

Medicine, 2018

30431579 (PubMed )
Supplement: medi-97-e13117-s003.xlsx › Sheet1
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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."