Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD36C
Variant:p.R417*
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ANKRD36C

NM_001393982.1:p.R417*

Associated Papers

Identification of Novel Genomic Variants in COVID-19 Patients Using Whole-Exome Sequencing: Exploring the Plausible Targets of Functional Genomics.

Mir R et al.

Biochemical Genetics, 2025

Applications for Circulating Cell-Free DNA in Oral Squamous Cell Carcinoma: A Non-Invasive Approach for Detecting Structural Variants, Fusions, and Oncoviruses.

Bhattacharya M et al.

Cancers, 2025

40563552 (PubMed )
Supplement: cancers-17-01901-s001.zip › S4_Somatic_nucleotide_variations__annotation_and_filtering.xlsx › Sheet1

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.

Chiereghin C et al.

Frontiers in Genetics, 2021

33643381 (PubMed )
Supplement: Table_3.xlsx › Foglio1

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
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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."