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HYLS1 encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified.
Gene Name: | hydrolethalus syndrome 1 |
Synonyms: | HYLS1, HLS, Hydrolethalus syndrome 1 |
Target Sequences: | AA600853 NP_659451.1 Q96M11 |
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