Varaico: Literature-Extracted Genetic Variants

Gene:DDHD2
Variant:p.K445_S447Fs
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DDHD2

NM_015214.3:p.K445_S447Fs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG54

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Phenotypic features of patients with schizophrenia carrying de novo gene mutations: a pilot study.

Malherbe PJ et al.

Psychiatry Research, 2015

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

Xu B et al.

Nature Genetics, 2012

23042115 (PubMed )
Supplement: NIHMS410678-supplement-5.xls › suppl_table_2
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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."