Varaico: Literature-Extracted Genetic Variants

Gene:DNAI2
Variant:p.E43*
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DNAI2

NM_023036.6:p.E43*

Associated Papers

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

Olcese C et al.

Nature Communications, 2017

28176794 (PubMed )
Supplement: ncomms14279-s1.pdf
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