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1 variant record found

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OMIA ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
OMIA 001342-8790 emu Mucopolysaccharidosis IIIB NAGLU deletion, small (<=20) yes c.1098_1099delGG 2001 11414757
Overall Statistics
Total number of variants 1
Variants with genomic location 0 (0.0% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
deletion, small (<=20) 1 100.0%
Year First Reported Count Percent
2001 1 100.0%