Varaico: Literature-Extracted Genetic Variants

Gene:DSTYK
Variant:p.Q218_E219Splc
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DSTYK

NM_015375.3:p.Q218_E219Splc

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG23

Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis.

Vidic C et al.

Molecular and Cellular Pediatrics, 2021

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

Lee JYW et al.

American Journal of Human Genetics, 2017

Mutations in DSTYK and dominant urinary tract malformations.

Sanna-Cherchi S et al.

The New England Journal of Medicine, 2013

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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."