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Mutation databases

Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss

Peiliang Lei, Qingwen Zhu, Wenrong Dong, Siqi Zhang, Yanyan Sun, Xitong Du, Meng Geng, Yuan Jiang

published 09 Nov 2022

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Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis

Gergő Berke, Noémi Gede, Letícia Szadai, Klementina Ocskay, Péter Hegyi, Miklós Sahin-Tóth, Eszter Hegyi

published 20 Oct 2022

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Phylodynamics of a regional SARS-CoV-2 rapid spreading event in Colorado in late 2020

Kristen J. Wade, Samantha Tisa, Chloe Barrington, Jesslyn C. Henriksen, Kristy R. Crooks, Christopher R. Gignoux, Austin T. Almand, J. Jordan Steel, John C. Sitko, Joseph W. Rohrer, Douglas P. Wickert, Erin A. Almand, David D. Pollock, Olivia S. Rissland

published 04 Oct 2022

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Assessment of minority frequency pretreatment HIV drug-resistant variants in pregnant women and associations with virologic non-suppression at term

Ceejay L. Boyce, Ingrid A. Beck, Sheila M. Styrchak, Samantha R. Hardy, Jackson J. Wallner, Ross S. Milne, R. Leavitt Morrison, David E. Shapiro, Esaú C. João, Mark H. Mirochnick, Lisa M. Frenkel

published 27 Sep 2022

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Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database

Luisa Sophie Rajcsanyi, Yiran Zheng, Pamela Fischer-Posovszky, Martin Wabitsch, Johannes Hebebrand, Anke Hinney

published 19 Sep 2022

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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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