Varaico: Literature-Extracted Genetic Variants

Gene:TWIST2
Variant:p.L109P
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TWIST2

NM_001271893.4:p.L109P

Associated Papers

Mechanisms of Regulation of the CHRDL1 Gene by the TWIST2 and ADD1/SREBP1c Transcription Factors.

Casasnovas-Nieves JJ et al.

Genes, 2023

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

Lee BH et al.

Journal of Medical Genetics, 2017

Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

Rosti RO et al.

Clinical Genetics, 2015

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.

Lee BH et al.

Journal of Human Genetics, 2015

Zellweger syndrome: first reported case in Thailand and literature review.

Jaruratanasirikul S et al.

The Southeast Asian Journal of Tropical Medicine and Public Health, 1995

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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."