Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.L127P
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IGFALS

NM_004970.3:p.L127P

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

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

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

Zaidman VE

Archivos Argentinos De Pediatria, 2017

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.

Wit JM et al.

European Journal of Endocrinology, 2016

A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).

Hess O et al.

Clinical Endocrinology, 2013

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."