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Frameshift mutation

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage

Shiv Kumar Viswanathan, Heather K. Sanders, [ ... ], Sakthivel Sadayappan

Loss of function JAK1 mutations occur at high frequency in cancers with microsatellite instability and are suggestive of immune evasion

Lee A. Albacker, Jeremy Wu, [ ... ], Juliann Chmielecki

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Daniela Rossi, Johanna Palmio, [ ... ], Vincenzo Sorrentino

Novel mutations in Darier disease and association to self-reported disease severity

Ivone U. S. Leong, Alexander Stuckey, [ ... ], Jakob D. Wikstrom

Molecular subtype specific efficacy of MEK inhibitors in pancreatic cancers

Diána Brauswetter, Bianka Gurbi, [ ... ], István Peták

Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation

Abdelaziz Tlili, Abdullah Fahd Al Mutery, [ ... ], Khalid Bajou

Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome

Eric Weh, Hideyuki Takeuchi, [ ... ], Elena V. Semina

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype

Shoko Onodera, Akiko Saito, [ ... ], Toshifumi Azuma

Direct and Inverted Repeat stimulated excision (DIRex): Simple, single-step, and scar-free mutagenesis of bacterial genes

Joakim Näsvall

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

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

Systematic genomic and translational efficiency studies of uveal melanoma

Chelsea Place Johnson, Ivana K. Kim, [ ... ], Scott E. Woodman

Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability

Jaime L. Stafford, Gregory Dyson, [ ... ], Michael A. Tainsky

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

Swati Tomar, Raman Sethi, [ ... ], Poh San Lai

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