Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS1
Variant:p.R262I
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PTDSS1

NM_014754.3:p.R262I

Associated Papers

Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review.

Zhang Y et al.

Frontiers in Pediatrics, 2025

Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.

Tamhankar PM et al.

European Journal of Medical Genetics, 2015

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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."