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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

Fig. 2

Distribution of variants in exonic location of LPIN2 and domain structure of the Lipin2 protein The structure of the protein is shown in the upper row with crucial domains, drawn approximately to scale. The structure of the LPIN2 is shown in the lower row. Two structures are linked by a dashed line to indicate exonic locations of respective domains. Variants above (red) are reported in this study. Variants shown in black below are previously reported in the literature. c.2327 + 1G > C has already been reported by Al-Mosawi (2007)

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