Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.P5L
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OPTN

NM_001008212.2:p.P5L

Associated Papers

Current advances of bone homeostasis imbalance in the cause of hereditary metabolic bone diseases.

Dai X et al.

Efort Open Reviews, 2026

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S et al.

Brain : a Journal of Neurology, 2017

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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."