Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS1
Variant:p.W277R
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PTDSS1

NM_014754.3:p.W277R

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

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.

Whyte MP et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015

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