Varaico: Literature-Extracted Genetic Variants

Gene:PDE6D
Variant:p.C86delFs
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PDE6D

NM_002601.4:p.C86delFs

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

The morbid genome of ciliopathies: an update.

Shamseldin HE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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