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Find link is a tool written by Edward Betts .
searching for GJB2 10 found (328 total)
alternate case: gJB2
Nagwa Abdel Meguid
(1,230 words)
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amino acids of the plasma membrane. Meguid described a new mutation for the GJB2 gene ( a gene responsible for recessive non-syndromic deafness) with a deletion
TECTA
(841 words)
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Nishimura CJ, McMordie S, Smith RJ (2007). "Audioprofiling identifies TECTA and GJB2 -related deafness segregating in a single extended pedigree". Clin. Genet
List of genes mutated in cutaneous conditions
(108 words)
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Lymphedema–distichiasis syndrome Meige lymphedema GALNT3 Familial tumoral calcinosis GJB2 Connexin 26 KID syndrome Vohwinkel syndrome Bart–Pumphrey syndrome GJB3 Connexin
Otoferlin
(1,276 words)
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isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus". European Journal of
Pendrin
(2,276 words)
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isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus". European Journal of
CDH23
(1,364 words)
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"Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family". Hum. Genet. 112 (2): 156–63. doi:10
USP53
(780 words)
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QJ (December 2015). "Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary
Hyperacusis
(4,210 words)
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Recently, it has been discovered that individuals with one copy of the GJB2 (Cx26) genetic mutation exhibit hearing that is more sensitive than average
Preimplantation genetic diagnosis
(14,457 words)
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orientation, height, beauty, or intelligence. Some tests, like those for GJB2 mutations linked to hereditary deafness, might lead to requests for PGD to
Gordon Awandare
(1,681 words)
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Geoffrey K.; Awandare, Gordon A.; Wonkam, Ambroise (2020). "Screening for GJB2 -R143W-Associated Hearing Impairment: Implications for Health Policy and Practice