Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.T334S
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CTNS

NM_004937.3:p.T334S

Associated Papers

A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin.

Deshpande AA et al.

Scientific Reports, 2018

[Lysosomal transport disorders: cystinosis and sialic acid storage disorders].

Eto Y

Ryoikibetsu Shokogun Shirizu, 1998

[Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].

Yano T et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995

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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."