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Mutation databases

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

Important roles of the human leukocyte antigen class I and II molecules and their associated genes in the autoimmune coagulation factor XIII deficiency via whole-exome sequencing analysis

Tsukasa Osaki, Masayoshi Souri, Akitada Ichinose

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants

Nicole Weisschuh, Simone Schimpf-Linzenbold, [ ... ], Bernd Wissinger

Prioritization of candidate genes for a South African family with Parkinson’s disease using in-silico tools

Boiketlo Sebate, Katelyn Cuttler, [ ... ], Soraya Bardien

High mutation burden in the checkpoint and micro-RNA processing genes in myelodysplastic syndrome

Ivan Sergeevich Moiseev, Nikolay Yurevich Tcvetkov, [ ... ], Elena Vladislavovna Morozova

Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis

Gabriel Rodrigues Coutinho Pereira, Bárbara de Azevedo Abrahim Vieira, Joelma Freire De Mesquita

Gene expression profiling identifies FLT3 mutation-like cases in wild-type FLT3 acute myeloid leukemia

Adrián Mosquera Orgueira, Andrés Peleteiro Raíndo, [ ... ], José Luis Bello López

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors

Dadasaheb Akolkar, Darshana Patil, [ ... ], Rajan Datar

Novel genetic variants of inborn errors of immunity

Farida Almarzooqi, Abdul-Kader Souid, Ranjit Vijayan, Suleiman Al-Hammadi

Whole-genome sequence analysis and comparisons between drug-resistance mutations and minimum inhibitory concentrations of Mycobacterium tuberculosis isolates causing M/XDR-TB

Ditthawat Nonghanphithak, Orawee Kaewprasert, [ ... ], Kiatichai Faksri

Genetic diversity of SARS-CoV-2 and clinical, epidemiological characteristics of COVID-19 patients in Hanoi, Vietnam

Tam Thi Nguyen, Thach Ngoc Pham, [ ... ], on behalf of the OUCRU COVID-19 Research Group

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein

Francisco R. Fields, Niraja Suresh, [ ... ], Shaun W. Lee

Signatures of somatic mutations and gene expression from p16^INK4A positive head and neck squamous cell carcinomas (HNSCC)

Nabil F. Saba, Ashok R. Dinasarapu, [ ... ], Zhuo Georgia Chen

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