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Human Mutation
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Wiley (John Wiley & Sons)
Homepage URLs
Example Publications
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments
Bianca Zardetto, Willeke M.C. van Roon-Mom, Annemieke Aartsma-Rus, Marlen Lauffer
2024
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Human Mutation
doi:10.1155/2024/9933129 pmcid:PMC11925151
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1
Desiree DeMille, Jamie McDonald, Carmelo Bernabeu, Hilary Racher, Carla Olivieri, Claudia Cantarini, Anna Sbalchiero, Bryony A Thompson, Luca Jovine, Claire Shovlin, Sophie Dupuis-Girod, Gaetan Lesca
(+8 others)
2024
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Human Mutation
doi:10.1155/2024/3043736 pmcid:PMC11919242
Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin
Maciej Jankowski, Patrycja Daca-Roszak, Irena Bałasz-Chmielewska, Adam Ustaszewski, Aleksandra Zurowska, Beata S. Lipska-Ziętkiewicz, Ewa Zietkiewicz, Aziz ur Rehman Aziz
2024
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Human Mutation
doi:10.1155/2024/8205102 pmcid:PMC11918915
Whole‐Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion
Guodong Gao, Shenglin Wang, Kan-Lin Hung, dongwei fan, Nanfang, Shenglin Wang, George P. Patrinos
2024
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Human Mutation
doi:10.1155/2024/5021689 pmcid:PMC11919064
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study
Artem Borovikov, Galeeva Nailya, Andrey Marakhonov, Aysylu Murtazina, Varvara Kadnikova, Ксения Давыденко, Anna Orlova, Peter Sparber, Tatiana Markova, Maria Orlova, Darya Osipova, Короткая Татьяна
(+31 others)
2024
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Human Mutation
doi:10.1155/2024/8849348 pmcid:PMC11918999
7,446
Known Releases
Preservation Summary [more]
| 1,464 | preserved and accessble (bright) | |
| 5,982 | preserved, inaccessible (dark) | |
| 0 | no known preservation |
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