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Missense mutation

Genetic and clinical determinants of neonatal jaundice and growth patterns in the Qingdao birth cohort: A genome-wide association study

Xu Chen, Peina Du, [ ... ], Silin Pan

Development of a novel and viable knock-in factor V deficiency murine model: Utility for an ultra-rare disease

Juan A. De Pablo-Moreno, Leopoldo González-Brusi, [ ... ], Antonio Liras

Computational investigation of missense somatic mutations in cancer and potential links to pH-dependence and proteostasis

Shalaw Sallah, Jim Warwicker

Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans

Sungsoon Hwang, Se Woong Kang, Jong-Won Kim, Sang Jin Kim

Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases

Mihaly Badonyi, Joseph A. Marsh

Complete mitochondrial genomes of patients from Thailand with cardiovascular diseases

Wipada Woravatin, Rattanasak Wongkomonched, [ ... ], Wibhu Kutanan

GTExome: Modeling commonly expressed missense mutations in the human genome

Jill Hoffman, Henry Tan, [ ... ], Scott M. Reed

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

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

A Bayesian approach to estimate the probability of resistance to bedaquiline in the presence of a genomic variant

Degefaye Zelalem Anlay, Emmanuel Rivière, [ ... ], Annelies Van Rie

Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan

Afia Iqbal, Shagufta Naz, [ ... ], Farkhanda Manzoor

PROM1, CXCL8, RUNX1, NAV1 and TP73 genes as independent markers predictive of prognosis or response to treatment in two cohorts of high-grade serous ovarian cancer patients

Agnieszka Dansonka-Mieszkowska, Laura Aleksandra Szafron, [ ... ], Lukasz Michal Szafron

Detection of SARS-CoV-2 and the L452R spike mutation using reverse transcription loop-mediated isothermal amplification plus bioluminescent assay in real-time (RT-LAMP-BART)

Takahiro Iijima, Shinnosuke Ando, [ ... ], Tomonori Hoshino

Survival of bladder or renal cancer in patients with CHEK2 mutations

Elżbieta Złowocka-Perłowska, Tadeusz Dębniak, [ ... ], Jan Lubiński

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