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The Human Gene Mutation Database (HGMDﾕ_ﾬ) represents an attempt to collate known (published) gene lesions responsible for human inherited disease.
Human Gene Mutation Database (HGMD ® ): 2003 update
Find data on mammalian proteases and diseases of proteolysis
Find data on chromosomal rearrangements in human diseases
Find data about hemoglobin variants and mutations that cause thal...
Find data about hemoglobin variants and mutations that cause thalassemia
Ranking candidate genes in exomes or NGS panels with comprehensiv...
Ranking candidate genes in exomes or NGS panels with comprehensive coverage of human Mendelian disease genes