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Mutation databases

Profiling of the most reliable mutations from sequenced SARS-CoV-2 genomes scattered in Uzbekistan

Mirzakamol S. Ayubov, Zabardast T. Buriev, [ ... ], Ibrokhim Y. Abdurakhmonov

Amyloid fibril composition type is consistent over time in patients with Val30Met (p.Val50Met) transthyretin amyloidosis

Intissar Anan, Ole B. Suhr, [ ... ], Elisabet Ihse

Autophagy characteristics and establishment of autophagy prognostic models in lung adenocarcinoma and lung squamous cell carcinoma

Zhubei Chen, Hui Xiong, Hao Shen, Qingsheng You

dbGSRV: A manually curated database of genetic susceptibility to respiratory virus

Ping Li, Yan Zhang, [ ... ], Zhihu Zhao

Coronavirus Resistance Database (CoV-RDB): SARS-CoV-2 susceptibility to monoclonal antibodies, convalescent plasma, and plasma from vaccinated persons

Philip L. Tzou, Kaiming Tao, Sergei L. Kosakovsky Pond, Robert W. Shafer

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

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