Varaico: Literature-Extracted Genetic Variants

Gene:COL11A2
Variant:p.P621T
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COL11A2

NM_080680.3:p.P621T

Associated Papers

Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.

Zhuri D et al.

The Journal of International Advanced Otology, 2024

Genetic etiology of hearing loss in Iran.

Babanejad M et al.

Human Genetics, 2022

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.

Vona B et al.

Molecular Syndromology, 2017

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.

Xia W et al.

Frontiers of Medicine, 2016

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Chakchouk I et al.

Molecular Genetics and Genomics : Mgg, 2015

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D et al.

Frontiers in Bioscience (landmark Edition), 2012

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N et al.

Journal of Human Genetics, 2010

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.

Chen W et al.

Journal of Medical Genetics, 2005

A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.

Tlili A et al.

Human Heredity, 2005

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.

Tropitzsch A et al.

Ear and Hearing, 0

34753855 (PubMed )
Supplement: aud-43-1049-s003.xlsx › variant_2
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