Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.H667D
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CFTR

NM_000492.4:p.H667D

Associated Papers

Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.

Takahashi N et al.

Journal of Neurochemistry, 2007

[Adrenoleukodystrophy: structure and function of ALDP, and intracellular behavior of mutant ALDP with naturally occurring missense mutations].

Takahashi N et al.

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2007

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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."