Varaico: Literature-Extracted Genetic Variants

Gene:MUCL3
Variant:p.P1114S
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MUCL3

NM_080870.4:p.P1114S

Associated Papers

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

Masson J et al.

Orphanet Journal of Rare Diseases, 2019

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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."