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Missense mutation

Predicting mutations deleterious to function in beta-lactamase TEM1 using MM-GBSA

Christopher Negron, David A. Pearlman, Guillermo del Angel

In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations

Andreea Nissenkorn, Yael Almog, [ ... ], Moran Rubinstein

Analysis of antifungal resistance genes in Candida albicans and Candida glabrata using next generation sequencing

Kathrin Spettel, Wolfgang Barousch, [ ... ], Birgit Willinger

Mutation of a serine near the catalytic site of the choline acetyltransferase a gene almost completely abolishes motility of the zebrafish embryo

Swarnima Joshi, Sanamjeet Virdi, [ ... ], Uwe Strähle

New cases of Glucose-6-Phosphate Dehydrogenase deficiency in Pulmonary Arterial Hypertension

Sergey Kurdyukov, Cody A. Eccles, [ ... ], Ruslan Rafikov

ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations

Hongyi Zhou, Mu Gao, Jeffrey Skolnick

Different outcome of sarcoglycan missense mutation between human and mouse

Sara F. Henriques, Cécile Patissier, [ ... ], Isabelle Richard

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

Global computational mutagenesis provides a critical stability framework in protein structures

Caitlyn L. McCafferty, Yuri V. Sergeev

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

Cheng-Tsung Hsiao, Yo-Tsen Liu, [ ... ], Bing-Wen Soong

The effect of the pathological V72I, D109N and T190M missense mutations on the molecular structure of α-dystroglycan

Sonia Covaceuszach, Manuela Bozzi, [ ... ], Alberto Cassetta

SWI/SNF Infobase—An exclusive information portal for SWI/SNF remodeling complex subunits

Udayakumar Mani, Alagu Sankareswaran S., Arun Goutham R. N., Suma Mohan S.

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

Beata S. Lipska-Ziętkiewicz, Jutta Gellermann, [ ... ], on behalf of The PodoNet Consortium

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