Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA8K
Variant:p.T190S
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GOLGA8K

NM_001282493.2:p.T190S

Associated Papers

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

Revealing tumor heterogeneity of breast cancer by utilizing the linkage between somatic and germline mutations.

Zou M et al.

Briefings in Bioinformatics, 2019

30239581 (PubMed )
Supplement: bby084_supp.zip › Supplementary_Table_3.xlsx › Driver_SNVs

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.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."