Varaico: Literature-Extracted Genetic Variants

Gene:PITX1
Variant:p.E57*
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PITX1

NM_002653.5:p.E57*

Associated Papers

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

Melnik E et al.

Clinics and Practice, 2026

Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.

Fu F et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2018

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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."