Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.Q115_M116Splc
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MITF

NM_000248.4:p.Q115_M116Splc

Associated Papers

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.

Balciuniene J et al.

Jama Network Open, 2023

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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."