Navegação Produção Científica por Assunto "VUS classifications"
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Which is the best in silico program for the Missense Variations in IDUA gene? A comparison of 33 programs plus a conservation score and evaluation of 586 missense variants
(2021) [Artigo de periódico]Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease characterized by the deficiency of alpha-L-iduronidase (IDUA), an enzyme involved in glycosaminoglycan degradation. More than 200 disease-causing ...