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Identification of New Variants in Patients with Mucopolysaccharidosis in Consanguineous Iranian Families

Rezvan Zabihi,Mina Zamani,Majid Aminzadeh, Niloofar Chamanrou,Fatemeh Zahra Kiani,Tahere Seifi,Jawaher Zeighami, Tahere Yadegari,Alireza Sedaghat,Alihossein Saberi,Mohammad Hamid,Gholamreza Shariati,Hamid Galehdari

Frontiers in Genetics（2024）

Cited 1|Views24
Key words
mucopolysaccharidosis (MPS),whole exome sequencing (WES),pathogenic variant,Sanger sequencing,genetic diagnosis
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