Ansar Ahmed Abbasi1,*, Kathrin Blasius2-4, Imtiaz Ahmed6, Hao Hu7, Sylvie Picker-Minh2-4,8, Muhammad Nasim Khan5, Khalid Hameed1, Aneela Gulnaz1, Zahid Latif5, Abdul Rauf5 and Angela M. Kaindl2-4,8
Asma Yousafzai1,*, Muhammad Luqman2, Nisar Ahmed1, Muneeza Arbab1,Muhammad Murad1, Naheed Sajjad3, Sara Naudhani1, Shakeela Daud1, Abdul Hameed Baloch4, Khushnaseeb5, Sana Zahoor6, Zahid Rauf7, Muhammad Mohsin Javed6 and Jamil Ahmad1
...3fs and p.Gly1770fs) and nonsense mutation (p.Glu1250X) was identified. In case of gene BRCA2, all the four variants were missense substitutions (p.Glu58Lys, p.Asp99Asn, p.Asp104Asn and p.Pro999Gln). The data reported here will be valuable addition for the future genetic screening of the breast cancer patients of Balochistan. 
...
Sajida Rasool1, Saba Irshad1*, Neelam Saba1, Mehak Fiaz1Muhammad Sajid Hussain2, MuhammadWajid Hussain3 and Peter Nürnberg2

 

...ealed a novel homozygous nonsense mutation (c.204T>G) in BICD2 gene which was predicted to yield a truncated protein product (p. Glu68*). This is first nonsense mutation being reported causing HSP with complex clinical features and early onset. Further, functional exploration will be required for genotype phenotype correlation.
...

Pakistan Journal of Zoology

February

Vol. 55, Iss. 1, Pages 1-500

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