Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.L256fs
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SMPD1

NM_000543.5:p.L256fs

Associated Papers

Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.

Alipouran F et al.

Reports of Biochemistry & Molecular Biology, 2023

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Saleh S et al.

Clinical Genetics, 2021

Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.

Zahedi Abghari F et al.

Medical Journal of the Islamic Republic of Iran, 2019

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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."