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Genetics
Bart-Pumphrey syndrome
SLC9A6 gene
SIX5 gene
CDKL5 deficiency disorder
Familial thoracic aortic aneurysm and dissection
Autosomal recessive congenital methemoglobinemia
LETM1 gene
X-linked juvenile retinoschisis
Hereditary xanthinuria
ATXN1 gene
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