Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5
Variant:p.A557T
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WASHC5

NM_014846.4:p.A557T

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG8

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient.

Gao SY et al.

Frontiers in Genetics, 2023

38028608 (PubMed )
Supplement: DataSheet1.XLSX › Sheet1

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Anazi S et al.

Molecular Psychiatry, 2017

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 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."