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List of works by Makia J Marafie

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

scientific article published on 15 February 2018

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

scientific article

Human Variome Project country nodes: documenting genetic information within a country

scientific article published on 18 July 2012

Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer

scientific article published on 14 November 2016

Planning the human variome project: the Spain report.

scientific article published in April 2009

Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

scientific article

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

scientific article published on 26 July 2019

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