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MatchTypeWhy
Santos-Cortez, Regie LynPerson Why?
Genes, RecessiveConcept Why?
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.Academic Article Why?
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.Academic Article Why?
Smith, FrancisPerson Why?
A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.Academic Article Why?
A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.Academic Article Why?
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.Academic Article Why?
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.Academic Article Why?
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.Academic Article Why?
Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.Academic Article Why?
Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.Academic Article Why?
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.Academic Article Why?
Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.Academic Article Why?
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.Academic Article Why?
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