Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.D314V
Back to variants list

HHAT

NM_018194.6:p.D314V

Associated Papers

Four New Patients of HHAT -Related Multiple Congenital Anomalies Syndrome (Nivelon-Nivelon-Mabille Syndrome) and a Comprehensive Literature Review.

Arı ABD et al.

American Journal of Medical Genetics. Part A, 2025

Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome.

Saini N et al.

American Journal of Medical Genetics. Part A, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."