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

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Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.

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Q47445785-84E9303E-4C79-40E3-A01A-44B120C0AF91

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

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

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

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

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P1476

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

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Indrajit Nanda

http://www.w3.org/2001/XMLSchema#string

Jens Gräf

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Jörg Schröder

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Michaela A H Hofrichter

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Thomas Haaf

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Wafaa Shehata-Dieler

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P2860

Predicting deleterious amino acid substitutions

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

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

Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues.

Rate of de novo mutations and the importance of father's age to disease risk

A method and server for predicting damaging missense mutations

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

Properties and rates of germline mutations in humans

Coevolution of activating and inhibitory receptors within mammalian carcinoembryonic antigen families

A framework for the interpretation of de novo mutation in human disease

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156-163

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scholarly article

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10.1159/000439576

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Barbara Vona

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2015-09-03T00:00:00Z

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282156568

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26648831

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P932

4662267

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

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P2860

P2860

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

description

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type

label

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932