Varaico: Literature-Extracted Genetic Variants

Gene:PEX19
Variant:p.P39S
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PEX19

NM_002857.4:p.P39S

Associated Papers

Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort.

Khalfallah R et al.

Annales D'endocrinologie, 2025

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.

Hussein Y et al.

Epilepsia Open, 2024

39509559 (PubMed )
Supplement: EPI4-9-2443-s002.docx

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C et al.

Amino Acids, 2015

26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 692.274
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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."