Varaico: Literature-Extracted Genetic Variants

Gene:LNPK
Variant:p.R251*
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LNPK

NM_030650.3:p.R251*

Associated Papers

Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype.

Türkyılmaz A et al.

Clinical Genetics, 2022

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Breuss MW et al.

American Journal of Human Genetics, 2018

The double-domain cytidine deaminase APOBEC3G is a cellular site-specific RNA editing enzyme.

Sharma S et al.

Scientific Reports, 2016

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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."