Varaico: Literature-Extracted Genetic Variants

Gene:HHEX
Variant:p.K204R
Back to variants list

HHEX

NM_002729.5:p.K204R

Associated Papers

Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.

Qiang R et al.

Bioscience Reports, 2021

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.

Myerowitz R

Human Mutation, 1997

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."