centriolar and ciliogenesis-associated protein HYLS1 [Homo sapiens]

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The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome. [Clin Genet. 2021]
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
Ghesh L, Musquer MD, Devisme L, Stichelbout M, Boutaud L, Elkhartoufi N, Vaast P, Boute O, Riteau AS, Le Vaillant C, et al. Clin Genet. 2021 Oct; 100(4):462-467. Epub 2021 Jul 13.
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. [Clin Genet. 2016]
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.
Oka M, Shimojima K, Yamamoto T, Hanaoka Y, Sato S, Yasuhara T, Yoshinaga H, Kobayashi K. Clin Genet. 2016 Jun; 89(6):739-43. Epub 2016 Mar 4.
Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. [J Neuropathol Exp Neurol. 2008]
Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.
Paetau A, Honkala H, Salonen R, Ignatius J, Kestilä M, Herva R. J Neuropathol Exp Neurol. 2008 Aug; 67(8):750-62.

RefSeq genomic sequence
See the genomic reference sequence for the HYLS1 gene (NG_011842.1).
RefSeq mRNA
See reference mRNA sequence for the HYLS1 gene (NM_001377270.1).
RefSeq protein isoforms
See 11 reference sequence protein isoforms for the HYLS1 gene.

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Protein