Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA8J
Variant:p.Q337R
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GOLGA8J

NM_001282472.2:p.Q337R

Associated Papers

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.

Luan Y et al.

Heliyon, 2025

39959475 (PubMed )
Supplement: mmc1.xlsx › Patient1-snvs

Next-generation sequencing revealed recurrent ZFPM1 mutations in encapsulated papillary carcinoma of the breast.

Liu X et al.

Npj Precision Oncology, 2021

34007008 (PubMed )
Supplement: 41698_2021_180_MOESM3_ESM.xlsx › Sheet1

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_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."