Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYNC1H1

Variant:p.K1052_V1053Splc

Back to variants list

DYNC1H1

NM_001376.5:p.K1052_V1053Splc

hg38:chr14:101994325 G>A

Associated Papers

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

Bueno MA et al.

Journal of Human Genetics, 2013

23514811 (PubMed )

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."