|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
|
30177809 |
2018 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.
|
26437881 |
2016 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.
|
26029705 |
2015 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Subunit determination of the conductance of hair-cell mechanotransducer channels.
|
25550511 |
2015 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
Biomarker
|
disease |
CLINGEN |
TMIE is an essential component of the mechanotransduction machinery of cochlear hair cells.
|
25467981 |
2014 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.
|
21816241 |
2012 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
Biomarker
|
disease |
CLINGEN |
DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.
|
21816241 |
2012 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
|
19888295 |
2010 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Unique transgenic animal model for hereditary hearing loss.
|
19102128 |
2008 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Subsequently, mutations in the human TMHS gene were shown to be responsible for DFNB67, an autosomal recessive nonsyndromic deafness locus.
|
17876667 |
2007 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
|
16752389 |
2006 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
|
16459341 |
2006 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
|
16752389 |
2006 |
|
| Entrez Id: |
222662 |
| Gene Symbol: |
LHFPL5 |
LHFPL5
|
0.340 |
Biomarker
|
disease |
CLINGEN |
A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.
|
15905332 |
2005 |