Varaico: Literature-Extracted Genetic Variants

Gene:MLPH
Variant:p.L227L
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MLPH

NM_024101.7:p.L227L

Associated Papers

The evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma.

Zhou Y et al.

Human Molecular Genetics, 2025

39776193 (PubMed )
Supplement: hmg-2024-oa-00747_supplementary_materials_ddae198.xlsx › Table_S9

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
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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."