Varaico: Literature-Extracted Genetic Variants

Gene:LONP1
Variant:p.A829T
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LONP1

NM_004793.4:p.A829T

Associated Papers

Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.

Ochoa E et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40825131 (PubMed )
Supplement: pnas.2505884122.sd01.xlsx › Sheet1

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW et al.

Jama, 2014

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Wang W et al.

Nucleic Acids Research, 2011

20843780 (PubMed )
Supplement: supp_gkq750_NAR-WangWetal-SuppTable-6.xls › gene_snp_analysis4

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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