RecName: Full=Calcium-binding protein 2; Short=CaBP2

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Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. [Mol Genet Genomic Med. 2022]
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.
Bharadwaj T, Schrauwen I, Acharya A, Nouel-Saied LM, Väisänen ML, Kraatari M, Rahikkala E, Jarvela I, Kotimäki J, Leal SM. Mol Genet Genomic Med. 2022 Mar; 10(3):e1866. Epub 2022 Feb 11.
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. [Am J Hum Genet. 2012]
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, Sommen M, Zazo Seco C, Oostrik J, Kremer H, et al. Am J Hum Genet. 2012 Oct 5; 91(4):636-45. Epub 2012 Sep 13.
DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment. [Clin Genet. 2011]
DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment.
Tabatabaiefar MA, Alasti F, Shariati L, Farrokhi E, Fransen E, Nooridaloii MR, Chaleshtori MH, Van Camp G. Clin Genet. 2011 Jun; 79(6):594-8.

RefSeq protein isoforms
See 2 reference sequence protein isoforms for the CABP2 gene.

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Q9NPB3 [Domain Mapping of Disease Mut...]
Q9NPB3
Domain Mapping of Disease Mutations
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Protein