Matches in Nanopublications for { ?s ?p "[Whole-exome sequencing of a single Italian proband affected by non-syndromic HL identified a novel missense variant within the PRPS1 gene (NM_002764.3:c.337G>T (p.A113S)) segregating with post-lingual, bilateral, progressive deafness in the proband's family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP1216221.RAyyUxqzyXSnfaWTZEDt4PsIhylk2TC0GG3pgCIakw7_8130_assertion description "[Whole-exome sequencing of a single Italian proband affected by non-syndromic HL identified a novel missense variant within the PRPS1 gene (NM_002764.3:c.337G>T (p.A113S)) segregating with post-lingual, bilateral, progressive deafness in the proband's family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1216221.RAyyUxqzyXSnfaWTZEDt4PsIhylk2TC0GG3pgCIakw7_8130_provenance.