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Mutation databases

Whole genome sequence analysis showing unique SARS-CoV-2 lineages of B.1.524 and AU.2 in Malaysia

Ummu Afeera Zainulabid, Aini Syahida Mat Yassim, [ ... ], Hajar Fauzan Ahmad

ASPICov: An automated pipeline for identification of SARS-Cov2 nucleotidic variants

Valentin Tilloy, Pierre Cuzin, [ ... ], Sophie Alain

Analysis of coding variants in the human FTO gene from the gnomAD database

Mauro Lúcio Ferreira Souza Junior, Jaime Viana de Sousa, João Farias Guerreiro

A rare CTSC mutation in Papillon-Lefèvre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function

Felix P. Sanchez Klose, Halla Björnsdottir, [ ... ], Johan Bylund

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

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