Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I261N
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CFTR

NM_000492.4:p.I261N

Associated Papers

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.

d'Addio M et al.

Human Molecular Genetics, 2000

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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."