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HYLS1 encodes a protein localized to the cytoplasm. Additionally we are shipping Hydrolethalus Syndrome 1 Antibodies (14) and Hydrolethalus Syndrome 1 Kits (3) and many more products for this protein.
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Despite variation in the clinicopathologic phenotype, all cases in the series carried the same homozygous missense mutation in HYLS1
This gene 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.
hydrolethalus syndrome 1
, hydrolethalus syndrome protein 1
, hydrolethalus syndrome protein 1 homolog