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. 2024 Aug 14;24:345. doi: 10.1186/s12886-024-03611-6

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© The Author(s) 2024

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Fig. 3 — Genetic analysis of family PKNYS09 with novel HPS1 variant. A From top to bottom: chromatograms of unaffected wildtype individual (Top), unaffected heterozygous carrier (Centre), and affected individual homozygous for cytosine at position c.2009. B ClustalO multiple amino acid sequence alignment of HPS1 orthologs shows p.Leu670 as highly conserved among species (shaded area represent conserved amino acids; light area represent non-conserved amino acids)