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  1. 1
    A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family

    A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family von Naudhani, Sara, Ahmad, Adeel, Khan Bazai, Fariya, Pervez, Muhammad Tariq, Zafar, Azqa, Shah, Sajjad Ali, Raheem, Nafeesa, Baloch, Abdul Hameed, Mushtaq, Muhammad, Daud, Shakeela

    Veröffentlicht in Molecular syndromology

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    Targeted Sequencing of HEXA Gene Shows Missense Substitution (p.Arg499His) in a Large Pakistani Family with Tay-Sachs Disease

    Targeted Sequencing of HEXA Gene Shows Missense Substitution (p.Arg499His) in a Large Pakistani Family with Tay-Sachs Disease von Fariya Khan Bazai, Hassan, Mehmood Ul, Tayyab, Hani, Naudhani, Sara, Siraj, Sami, Tariq, Muhammad, Shah, Sajjad Ali, Ahmad, Jamil, Daud, Shakeela

    Veröffentlicht in Cytology and genetics

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