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SPATA7

Official Full Name
spermatogenesis associated 7
Organism
Homo sapiens
GeneID
55812
Background
This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Synonyms
HSD3; LCA3; RP94; HSD-3.1; HEL-S-296;

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