P2RX2 exon-2 indel disrupts splicing and reduces receptor output in one DFNA41 family
A single-family functional study found that a heterozygous P2RX2 exon-2 insertion-deletion caused aberrant splicing and reduced P2X2 output, supporting a ...
Tag: aberrant splicing
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P2RX2 exon-2 indel disrupts splicing and reduces receptor output in one DFNA41 family
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