Articles with "242g variant" as a keyword



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Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.

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Published in 2021 at "Molecular genetics & genomic medicine"

DOI: 10.1002/mgg3.1810

Abstract: Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common inherited sensory impairment. It is particularly frequent in North African populations who have a high rate of consanguineous marriage. The c.242G>A homozygous variant in LRTOMT… read more here.

Keywords: hearing loss; variant; syndromic hearing; non syndromic ... See more keywords