Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS1
Variant:p.R95L
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PTDSS1

NM_014754.3:p.R95L

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

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-5_Final_021921.xlsx › Table_S3.5

Lenz-Majewski syndrome in a patient from Egypt.

Afifi HH et al.

American Journal of Medical Genetics. Part A, 2019

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Piard J et al.

American Journal of Medical Genetics. Part A, 2018

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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."