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Exome Sequencing in Four Families with Neurodevelopmental Disorders: Genotype–phenotype Correlation and Identification of Novel Disease-Causing Variants in VPS13B and RELN

Tehseen Ullah Khan Afridi,Ambrin Fatima,Humayoon Shafique Satti,Zaineb Akram, Imran Khan Yousafzai, Wajahat Bin Naeem, Nasreen Fatima, Asmat Ali,Zafar Iqbal,Ayaz Khan, Muhammad Shahzad,Chunyu Liu,Mathias Toft,Feng Zhang,Muhammad Tariq,Erica E. Davis,Tahir N. Khan

Molecular Genetics and Genomics(2024)

引用 1|浏览17
关键词
Exome sequencing,Neurodevelopmental disorders,Mutation screening
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