Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.
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Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa.Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
P2860
Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.
description
2015 nî lūn-bûn
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2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
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name
Novel COCH p.V123E Mutation, C ...... tional Cleavage and Secretion.
@en
type
label
Novel COCH p.V123E Mutation, C ...... tional Cleavage and Secretion.
@en
prefLabel
Novel COCH p.V123E Mutation, C ...... tional Cleavage and Secretion.
@en
P2860
P50
P356
P1433
P1476
Novel COCH p.V123E Mutation, C ...... tional Cleavage and Secretion.
@en
P2093
Eun Jin Yang
P2860
P304
P356
10.1002/HUMU.22855
P577
2015-08-10T00:00:00Z