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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC5A7

Variant:p.G123_M126del4

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SLC5A7

NM_021815.5:p.G123_M126del4

hg38:chr2:107993045 TGGAAAACGCATG>T

Associated Papers

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Bauché S et al.

American Journal of Human Genetics, 2016

27569547 (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."