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Publication

Functional characterization of the first missense variant in CEP78, a founder allele associated with coneU+2010rod dystrophy, hearing loss and reduced male fertility

Journal Contribution - Journal Article

Journal: HUMAN MUTATION

ISSN: 1098-1004

Issue: 5

Volume: 41

Pages: 998 - 1011

Publication year:2020

DOI: https://doi.org/10.1002/humu.23993
Handle: http://hdl.handle.net/1854/LU-8645355
WoS Id: 000512720600001

Accessibility:Open

See also: Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
See also: Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility