Varaico: Literature-Extracted Genetic Variants

Gene:P4HTM
Variant:p.R273insFs
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P4HTM

NM_177939.3:p.R273insFs

Associated Papers

A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder.

Gülcü Üstün NS

Psychiatric Genetics, 2024

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._

Further delineation of HIDEA syndrome.

Maddirevula S et al.

American Journal of Medical Genetics. Part A, 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."