Varaico: Literature-Extracted Genetic Variants

Gene:NISCH
Variant:p.Q1463H
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NISCH

NM_007184.4:p.Q1463H

Associated Papers

Using whole exome sequencing to identify susceptibility genes associated with nonsyndromic cleft lip with or without cleft palate.

Fu Z et al.

Molecular Genetics and Genomics : Mgg, 2023

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.

Wang J et al.

Frontiers in Pediatrics, 2020

33344382 (PubMed )
Supplement: Table_2.XLSX › Result

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

Ling C et al.

Bmc Medical Genetics, 2019

30642278 (PubMed )
Supplement: 12881_2018_725_MOESM2_ESM.xlsx › Sheet1
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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."