Varaico: Literature-Extracted Genetic Variants

Gene:PITX1
Variant:p.K138Q
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PITX1

NM_002653.5:p.K138Q

Associated Papers

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

Melnik E et al.

Clinics and Practice, 2026

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

Morel G et al.

Human Mutation, 2020

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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."