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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTNS

Variant:p.A137V

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CTNS

NM_004937.3:p.A137V

hg38:chr17:3655301 C>T

Associated Papers

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

Deshpande AA et al.

Scientific Reports, 2018

29467429 (PubMed )

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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."