Varaico: Literature-Extracted Genetic Variants

Gene:POLA1
Variant:p.I79S
Back to variants list

POLA1

NM_016937.4:p.I79S

Associated Papers

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Schmit M et al.

International Journal of Molecular Sciences, 2021

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

Van Esch H et al.

American Journal of Human Genetics, 2019

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."