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A bioinformatic pipeline for NGS data analysis and mutation calling in human solid tumors

artículo científico publicado en 2017

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

artículo científico publicado en 2018

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

article

Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report

artículo científico publicado en 2019

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

scientific article published on 13 October 2020

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

artículo científico publicado en 2021

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