RecName: Full=Collagen alpha-1(XXV) chain; AltName: Full=Alzheimer dis - Protein

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Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. [Hum Mutat. 2022]
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, Manzur A, DiTroia SP, Di Gioia SA, Pais L, Pini V, Barry BJ, et al. Hum Mutat. 2022 Apr; 43(4):487-498. Epub 2022 Feb 3.
Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence. [J AAPOS. 2015]
Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence.
Khan AO, Al-Mesfer S. J AAPOS. 2015 Oct; 19(5):463-5.
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. [Am J Hum Genet. 2015]
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N. Am J Hum Genet. 2015 Jan 8; 96(1):147-52. Epub 2014 Dec 11.

RefSeq genomic sequence
See the genomic reference sequence for the COL25A1 gene (NG_047204.1).
RefSeq protein isoforms
See 17 reference sequence protein isoforms for the COL25A1 gene.

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Q9BXS0 [Domain Mapping of Disease Mut...]
Q9BXS0
Domain Mapping of Disease Mutations
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