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Mutation databases

Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers

Abdulaziz B. Hamid, Lauren E. Frank, Renee A. Bouley, Ruben C. Petreaca

published 15 Sep 2022

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Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan

Afia Iqbal, Shagufta Naz, Haiba Kaul, Saima Sharif, Aysha Khushbakht, Muhammad Asif Naeem, Mehwish Iqtedar, Afshan Kaleem, Sabika Firasat, Farkhanda Manzoor

published 29 Aug 2022

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Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders

Tejashwini Vittal Kumar, Meenakshi Bhat, Sanjeeva Ghanti Narayanachar, Vinu Narayan, Ambika K. Srikanth, Swathi Anikar, Swathi Shetty

published 14 Jul 2022

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Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals

Xiaona Wang, Jun Chen, Hui Xiong, Xuhui Yu

published 13 Jul 2022

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Genomic surveillance of SARS-CoV-2 in patients presenting neurological manifestations

Anna Vicco, Francesca Caccuri, Serena Messali, Adriana Vitiello, Aron Emmi, Claudia Del Vecchio, Alberto Reale, Arnaldo Caruso, Giancarlo Ottaviano, Carla Mucignat, Cristina Parolin, Angelo Antonini, Arianna Calistri

published 30 Jun 2022

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EZTraits: A programmable tool to evaluate multi-site deterministic traits

Matt Carland, Haley Pedersen, Madhuchanda Bose, Biljana Novković, Charles Manson, Shany Lahan, Alex Pavlenko, Puya G. Yazdi, Manfred G. Grabherr

published 09 May 2022

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Comparative analysis of web-based programs for single amino acid substitutions in proteins

Arunabh Choudhury, Taj Mohammad, Farah Anjum, Alaa Shafie, Indrakant K. Singh, Bekhzod Abdullaev, Visweswara Rao Pasupuleti, Mohd Adnan, Dharmendra Kumar Yadav, Md. Imtaiyaz Hassan

published 04 May 2022

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Magnitude and predictors of HIV-Drug resistance in Africa: A protocol for systematic review and meta-analysis

Mulugeta Melku, Hailay Abrha Gesesew, Paul R. Ward

published 20 Apr 2022

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Profiling of the most reliable mutations from sequenced SARS-CoV-2 genomes scattered in Uzbekistan

Mirzakamol S. Ayubov, Zabardast T. Buriev, Mukhammadjon K. Mirzakhmedov, Abdurakhmon N. Yusupov, Dilshod E. Usmanov, Shukhrat E. Shermatov, Khurshida A. Ubaydullaeva, Ibrokhim Y. Abdurakhmonov

published 31 Mar 2022

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Amyloid fibril composition type is consistent over time in patients with Val30Met (p.Val50Met) transthyretin amyloidosis

Intissar Anan, Ole B. Suhr, Katarzyna Liszewska, Jorge Mejia Baranda, Björn Pilebro, Jonas Wixner, Elisabet Ihse

published 31 Mar 2022

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Autophagy characteristics and establishment of autophagy prognostic models in lung adenocarcinoma and lung squamous cell carcinoma

Zhubei Chen, Hui Xiong, Hao Shen, Qingsheng You

published 25 Mar 2022

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dbGSRV: A manually curated database of genetic susceptibility to respiratory virus

Ping Li, Yan Zhang, Wenlong Shen, Shu Shi, Zhihu Zhao

published 17 Mar 2022

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Coronavirus Resistance Database (CoV-RDB): SARS-CoV-2 susceptibility to monoclonal antibodies, convalescent plasma, and plasma from vaccinated persons

Philip L. Tzou, Kaiming Tao, Sergei L. Kosakovsky Pond, Robert W. Shafer

published 09 Mar 2022

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