Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A22
Variant:p.P78P
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SLC25A22

NM_001191061.2:p.P78P

Associated Papers

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S4__MITNGS_S4_

Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.

Duan J et al.

Scientific Reports, 2013

23422947 (PubMed )
Supplement: srep01318-s2.xls › S7

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.

Molinari F et al.

Clinical Genetics, 2009

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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."