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gene: TENT5A

id55603
symbolTENT5A
organismHomo sapiens
full nameterminal nucleotidyltransferase 5A
variant-disease

NM_017633.3(TENT5A):c.380A>G (p.His127Arg) AND OSTEOGENESIS IMPERFECTA, TYPE XVIII

NM_017633.3(TENT5A):c.610_611AT[3] (p.Ser205fs) AND OSTEOGENESIS IMPERFECTA, TYPE XVIII

NM_017633.3(TENT5A):c.72_86CGGCGACTTCGGCGG[3] (p.26_30DFGGG[3]) AND not specified

NM_017633.3(TENT5A):c.692A>G (p.Asp231Gly) AND OSTEOGENESIS IMPERFECTA, TYPE XVIII

GRCh37/hg19 6q14.1(chr6:78216253-82753743)x3 AND not provided

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