Varaico: Literature-Extracted Genetic Variants

Gene:ARSL
Variant:p.E194K
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ARSL

NM_000047.3:p.E194K

Associated Papers

Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.

Chen M et al.

Frontiers in Endocrinology, 2022

A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.

Rafati M et al.

European Journal of Medical Genetics, 2016

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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."