Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.L257P
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HHAT

NM_001170564.3:p.L257P

Associated Papers

Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.

Pande S et al.

American Journal of Medical Genetics. Part A, 2021

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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."