Varaico: Literature-Extracted Genetic Variants

Gene:POTEJ
Variant:p.M892T
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POTEJ

NM_001277083.2:p.M892T

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_2__manuscript_supplementary_material_.xlsx › Variant_details

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

UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Saini N et al.

Plos Genetics, 2021

33444353 (PubMed )
Supplement: pgen.1009302.s014.xlsx › S5_Table

Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor.

Quevedo R et al.

Genome Medicine, 2020

32345369 (PubMed )
Supplement: 13073_2020_730_MOESM5_ESM.xlsx › SD._Exome_SNVs
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