Varaico: Literature-Extracted Genetic Variants

Gene:KIF1C
Variant:p.D974N
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KIF1C

NM_006612.6:p.D974N

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG58

Human phenotype caused by biallelic KDM4B frameshift variant.

Takada S et al.

Clinical Genetics, 2024

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.

Smyk M et al.

Genes, 2023

36980952 (PubMed )
Supplement: genes-14-00680-s001.zip › Supplementary_Table_S5.xlsx › Arkusz1
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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."