Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.K201_V202Splc
Back to variants list

PUF60

NM_078480.3:p.K201_V202Splc

Associated Papers

Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.

Miao M et al.

Gene, 2024

Spliceosomopathies and neurocristopathies: Two sides of the same coin?

Beauchamp MC et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2020

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

Zhao JJ et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

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."