Varaico: Literature-Extracted Genetic Variants

Gene:PIANP
Variant:p.R114*
Back to variants list

PIANP

NM_001244014.2:p.R114*

Associated Papers

Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.

Abualsaud D et al.

American Journal of Medical Genetics. Part A, 2021

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

Anazi S et al.

Molecular Psychiatry, 2017

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."