Varaico: Literature-Extracted Genetic Variants

Gene:PITX1
Variant:p.A256fs
Back to variants list

PITX1

NM_002653.5:p.A256fs

Associated Papers

A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome.

Melnik E et al.

Clinics and Practice, 2026

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

Bianco AM et al.

Genes, 2022

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Morel G et al.

Human Mutation, 2020

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."