Varaico: Literature-Extracted Genetic Variants

Gene:MXRA5
Variant:p.V595M
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MXRA5

NM_015419.4:p.V595M

Associated Papers

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.

Mederer T et al.

Plos Genetics, 2020

33151932 (PubMed )
Supplement: pgen.1009106.s004.pdf

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.

Hauer NN et al.

European Journal of Human Genetics : Ejhg, 2019

30809043 (PubMed )
Supplement: 41431_2019_362_MOESM2_ESM.xlsx › Variant_Level_Trio

Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.

Nolan D et al.

Journal of Child Neurology, 2016

26863999 (PubMed )
Supplement: supplemental_material.pdf
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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."