Article

Deafness DFNB110 associated with a human MAP3K1 recessive variant recapitulates hearing loss of Map3k1 kinase deficient mice

2023-09-06

Abstract excerpt

<title>Abstract</title> <p>Deafness in vertebrates is associated with variants of hundreds of genes. Yet, many genes causing rare forms of deafness remain to be discovered. Microarrays and exome sequencing were used to study a consanguineous Pakistani family segregating nonsyndromic deafness in two sibships. A 1.2 Mb locus (<italic>DFNB110</italic>) on chromosome 5q11.2 encompassing six genes was identified. In o...

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Literature Corpus work: 3e19ae0b-0679-5e1b-8f78-336361ef567a
DOI: 10.21203/rs.3.rs-3310464/v1

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Deafness DFNB110 associated with a human MAP3K1 recessive variant recapitulates hearing loss of Map3k1 kinase deficient miceDOI 10.21203/rs.3.rs-3310464/v1Read

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