Varaico: Literature-Extracted Genetic Variants

Gene:LNPK
Variant:p.D257delFs
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LNPK

NM_030650.3:p.D257delFs

Associated Papers

Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Turkyilmaz A et al.

Clinical Genetics, 2025

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

Türkyılmaz A et al.

Clinical Genetics, 2022

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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."