Varaico: Literature-Extracted Genetic Variants

Gene:CSPP1
Variant:p.P56delFs
Back to variants list

CSPP1

NM_001382391.1:p.P56delFs

Associated Papers

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Favier M et al.

Prenatal Diagnosis, 2024

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."