Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.R424C
Back to variants list

HHAT

NM_018194.6:p.R424C

Associated Papers

Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.

Bakhshalizadeh S et al.

Molecular and Cellular Endocrinology, 2024

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Dulak AM et al.

Nature Genetics, 2013

23525077 (PubMed )
Supplement: NIHMS474888-supplement-5.xlsx › S._Table_15
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."