Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A46
Variant:p.A312ins1
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SLC25A46

NM_138773.4:p.A312ins1

Associated Papers

Lack of genetic evidence for a role of SLC25A46 in alpha-synucleinopathies.

Yu H et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646756 (PubMed )
Supplement: media-1.xlsx › Table_S2

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D et al.

International Journal of Molecular Sciences, 2021

34445196 (PubMed )
Supplement: ijms-22-08490-s001.zip › Table_S4_revised__2.8.21.xlsx › Sheet1

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A et al.

Journal of Clinical Medicine, 2021

33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Salfati EL et al.

Genome Medicine, 2019

31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3A
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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."