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Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Added in this revision:
Löppönen T, Dietz A, Väisänen ML, Valtonen H, Kosunen A, Hyvärinen A, Ignatius
J, Löppönen H. Homozygous M34T mutation of the GJB2 gene associates with an
autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish
families. Acta Otolaryngol. 2012 Aug;132(8):862-73. doi:
10.3109/00016489.2012.669498. Epub 2012 Jun 5. PubMed PMID: 22668073.
GS19649 - var-GS19649-1100-36-ASM
het G @ chr13:19661620