Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.R59P
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MRPL28

NM_006428.5:p.R59P

Associated Papers

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Patel RM et al.

Cold Spring Harbor Molecular Case Studies, 2017

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C et al.

Amino Acids, 2015

26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3
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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."