Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.R312S
Back to variants list

HHAT

NM_018194.6:p.R312S

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

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.

Rjiba K et al.

Reproductive Biology and Endocrinology : Rb&e, 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."