Varaico: Literature-Extracted Genetic Variants

Gene:ITLN1
Variant:p.R313C
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ITLN1

NM_017625.3:p.R313C

Associated Papers

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Halim D et al.

American Journal of Human Genetics, 2017

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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."