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Mutation databases

Tryptophan residue 32 in human Cu-Zn superoxide dismutase modulates prion-like propagation and strain selection

Anthony Crown, Luke McAlary, [ ... ], Jacob I. Ayers

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation

Chenyu Zhao, DongFang Tang, [ ... ], Xiaoliu Shi

The tubulin database: Linking mutations, modifications, ligands and local interactions

Izra Abbaali, Danny Truong, [ ... ], Naomi S. Morrissette

High prevalence of phenotypic pyrazinamide resistance and its association with pncA gene mutations in Mycobacterium tuberculosis isolates from Uganda

Resty Naluyange, Gerald Mboowa, [ ... ], Willy Ssengooba

Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

Ying Lin, Xue-Jun Chen, [ ... ], Zheng-Lin Yang

Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly

Erich Roessler, Ping Hu, [ ... ], Maximilian Muenke

Genetic mutational status of genes regulating epigenetics: Role of the histone methyltransferase KMT2D in triple negative breast tumors

Sara Morcillo-Garcia, Maria del Mar Noblejas-Lopez, [ ... ], Alberto Ocana

A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux

Amelie T. van der Ven, Birgit Kobbe, [ ... ], Friedhelm Hildebrandt

MLST typing of Treponema pallidum subsp. pallidum in the Czech Republic during 2004-2017: Clinical isolates belonged to 25 allelic profiles and harbored 8 novel allelic variants

Eliška Vrbová, Linda Grillová, [ ... ], David Šmajs

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

Cherine Charfeddine, Nadia Laroussi, [ ... ], Houda Hammami-Ghorbel

Global computational mutagenesis provides a critical stability framework in protein structures

Caitlyn L. McCafferty, Yuri V. Sergeev

Impact of annotation error in α-globin genes on molecular diagnosis

J. Francis Borgio

Rare gene deletions in genetic generalized and Rolandic epilepsies

Kamel Jabbari, Dheeraj R. Bobbili, [ ... ], Peter Nürnberg

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