Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.T145K
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IGFALS

NM_004970.3:p.T145K

Associated Papers

Proteomic analysis of small extracellular vesicles from the plasma of patients with hepatocellular carcinoma.

Dong W et al.

World Journal of Surgical Oncology, 2022

36471393 (PubMed )
Supplement: 12957_2022_2849_MOESM4_ESM.xlsx › enrichment.PMID

Structural basis for assembly and disassembly of the IGF/IGFBP/ALS ternary complex.

Kim H et al.

Nature Communications, 2022

A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

Poyrazoğlu Ş et al.

Journal of Clinical Research in Pediatric Endocrinology, 2019

Analysis of acid-labile subunit and its usefulness in pediatrics.

Zaidman VE

Archivos Argentinos De Pediatria, 2017

Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.

Storr HL et al.

Journal of Endocrinological Investigation, 2015

Novel acid-labile subunit ( IGFALS ) mutation p.T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction.

Schreiner F et al.

Hormone Research in Paediatrics, 2013

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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."