Varaico: Literature-Extracted Genetic Variants

Gene:CEACAM16
Variant:p.T140P
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CEACAM16

NM_001039213.4:p.T140P

Associated Papers

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.

Markova TG et al.

The Journal of International Advanced Otology, 2024

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.

Zhang D et al.

Annals of Human Genetics, 2022

Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.

D'Aguillo C et al.

International Journal of Audiology, 2019

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.

Booth KT et al.

Journal of Medical Genetics, 2018

A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment.

Hofrichter MA et al.

Molecular Syndromology, 2015

Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.

Wang H et al.

Journal of Human Genetics, 2015

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

Zheng J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

[The prenatal diagnosis and early intervention of nonsyndromic hearing loss of connexin26 gene].

He C et al.

Lin Chuang Er Bi Yan Hou Ke Za Zhi = Journal of Clinical Otorhinolaryngology, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."