Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.T716S
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CDHR1

NM_033100.4:p.T716S

Associated Papers

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

De Mori R 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."