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<i>STRC</i> Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population

25

Citations

12

References

2018

Year

Abstract

Our results provide strong evidence that STRC gene mutations are an important cause of NSHL-AR in Czech HL patients and are probably the second most common cause of DFNB. Large CNVs were more frequent than point mutations and it is reasonable to test them first by a QF-PCR method-a simple, accessible, and efficient tool for STRC CNV detection, which can be combined by MLPA.

References

YearCitations

2015

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2016

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2001

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1993

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1997

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2010

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2013

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2016

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2011

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