Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.R136H
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RP1L1

NM_178857.6:p.R136H

Associated Papers

An explainable model of host genetic interactions linked to COVID-19 severity.

Onoja A et al.

Communications Biology, 2022

36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S1

A novel nonsense variant in MED12 associated with malformations in a female fetus.

Faergeman SL et al.

Clinical Case Reports, 2021

34987808 (PubMed )
Supplement: CCR3-9-e05124-s001.xlsx › _Variants_123__Filter_Variants

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Machnicki MM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
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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."