Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.S408del1
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TPP1

NM_000391.4:p.S408del1

Associated Papers

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.

Zhang L et al.

Genome Medicine, 2025

Haploidentical haematopoietic stem cell transplantation combined with post-transplant cyclophosphamide in neuronal ceroid lipofuscinosis: Experience in eight patients.

Song Z et al.

Medicina Clinica, 2024

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity.

Niu Y et al.

Frontiers in Neurology, 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."