Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
Ali, Ghazanfar, Awan, Naheed Bashir, Sadia, Khawaja, Abdul Waheed, Foo, Jia Nee, Khor, Chiea Chuen, Chang, Chu‐Hua, Chew, Elaine GuoYan, Kiani, Farhat Rafique, Jelani, Musharraf
Published in The journal of gene medicine (01.05.2020)
Published in The journal of gene medicine (01.05.2020)
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Journal Article
Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome
Ali, Ghazanfar, Sadia, Foo, Jia Nee, Nasir, Abdul, Chang, Chu-Hua, Chew, Elaine GuoYan, Latif, Zahid, Azeem, Zahid, Ain-ul-Batool, Syeda, Kazmi, Syed Akif Raza, Awan, Naheed Bashir, Khan, Abdul Hameed, Rehman, Fazal-Ur, Khalid, Madiha, Wali, Abdul, Sarwar, Samina, Akhtar, Wasim, Ahmed Abbasi, Ansar, Nisar, Rameez
Published in BioMed research international (2021)
Published in BioMed research international (2021)
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Journal Article