Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH1
Variant:p.K59_E60delFs
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DIAPH1

NM_005219.5:p.K59_E60delFs

Associated Papers

Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses.

Biglari S et al.

Human Genetics, 2026

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."