Structural and functional insights into a novel homozygous missense pathogenic variant in <i>CUL7</i> identified in consanguineous Pakistani family-Reference-Cited by-同舟云学术

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Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family

Published:2023-06-22 Issue: Volume: Page:1-12
ISSN:0739-1102
Container-title:Journal of Biomolecular Structure and Dynamics
language:en
Short-container-title:Journal of Biomolecular Structure and Dynamics

Author:

Zaka Ayesha¹²,Yousaf Maha¹,Shahzad Shaheen¹,Rao Hadi Zahid³,Foo Jia Nee⁴,Siddiqi Saima²

Affiliation:

1. Genomics Research Lab, Department of Biological Sciences, International Islamic University, Islamabad, Pakistan

2. Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan

3. Department of Oral & Maxillofacial Surgery, Bahria University Medical and Dental College Karachi, Pakistan

4. Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore

Publisher

Informa UK Limited

Subject

Molecular Biology,General Medicine,Structural Biology

Link

https://www.tandfonline.com/doi/pdf/10.1080/07391102.2023.2224889

Reference62 articles.

1. A method and server for predicting damaging missense mutations

2. A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features

3. SureSelect targeted enrichment, a new cost effective method for the whole genome sequencing of Candidatus Liberibacter asiaticus

4. PhD-SNPg: a webserver and lightweight tool for scoring single nucleotide variants

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