Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.L171I
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DNM1L

NM_012062.5:p.L171I

Associated Papers

Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.

Zheng Y et al.

Brain : a Journal of Neurology, 2025

39423307 (PubMed )
Supplement: awae324_supplementary_data.zip › brain-2024-01629-File012-v2.xlsx › P_LP_VUS

Evaluating the association between DNM1L variants and Parkinson's disease in the Chinese population.

Liu J et al.

Frontiers in Neurology, 2023

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
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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."