Varaico: Literature-Extracted Genetic Variants

Gene:CRIPT
Variant:p.K88E
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CRIPT

NM_014171.6:p.K88E

Associated Papers

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.

Leduc MS et al.

American Journal of Medical Genetics. Part A, 2016

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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."