Varaico: Literature-Extracted Genetic Variants

Gene:PREPL
Variant:p.L510L
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PREPL

NM_001171613.2:p.L510L

Associated Papers

Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.

Choi WJ et al.

Scientific Reports, 2024

38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3

Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency

Sayol-Torres L et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.

Pugliese A et al.

Journal of Neuromuscular Diseases, 2023

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.

Shchagina O et al.

Genes, 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."