Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.A106Splc
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PTRH1

NM_001002913.3:p.A106Splc

Associated Papers

Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.

Catteruccia M et al.

Molecular Genetics and Metabolism, 2014

[Carney complex: a case report and literature review].

Almeida MQ et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2004

Mutations in SEC63 cause autosomal dominant polycystic liver disease.

Davila S et al.

Nature Genetics, 2004

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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."