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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Disease and PNKP[original query]
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.
Journal of pediatric genetics 2019 5 8 (2): 58-62.
Rudenskaya Galina E, Marakhonov Andrey V, Shchagina Olga A, Lozier Ekaterina R, Dadali Elena L, Akimova Irina A, Petrova Nika V, Konovalov Fedor
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Pediatric neurology 2020 9 113 26-32.
Garrelfs Mark R, Takada Sanami, Kamsteeg Erik-Jan, Pegge Sjoert, Mancini Grazia, Engelen Marc, van de Warrenburg Bart, Rennings Alexander, van Gaalen Judith, Peters Ivo, Weemaes Corry, van der Burg Mirjam, Willemsen Michèl
Antioxidant enzyme and DNA base repair genetic risk scores' associations with systemic oxidative stress biomarker in pooled cross-sectional studies.
Frontiers in aging 2023 5 4 1000166.
Ziling Mao, Abigail L H Gray, Bharat Thyagarajan, Roberd M Bosti
Comprehensive exploration on the role of base excision repair genes in modulating immune infiltration in low-grade glioma.
Pathology, research and practice 2024 8 262 155559.
Parthipan P, Subhadra Kumari, Santosh Kumar, Srinivasan Muthuswa
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