Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.P176L
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KIF1A

NM_001244008.2:p.P176L

Associated Papers

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia.

Gabrych DR et al.

Frontiers in Cellular Neuroscience, 2019

31616253 (PubMed )
Supplement: Table_1.docx
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