Fig. 2 | European Journal of Human Genetics

Fig. 2

From: KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Fig. 2

Pedigrees of the 24 families with HSP. Generations are given in Roman numbers, circles are females, squares are males, solid symbols are affected individuals. Deceased individuals are crossed out. Variants are indicated above the pedigree’s by protein nomenclature and indicated by variant (+) and wild type (−) under each tested individual. Arrows indicate the probands. The full HGVS nomenclature of the Chr2q37 deletion is Chr2[GRCh37]:g.(238475818_238482964)_(243037178_qter)del

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