Varaico: Literature-Extracted Genetic Variants

Gene:CPAP
Variant:p.Q583H
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CPAP

NM_018451.5:p.Q583H

Associated Papers

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Syrbe S et al.

Nature Genetics, 2015

25751627 (PubMed )
Supplement: NIHMS62156-supplement-3.xls › patient_3

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
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