Varaico: Literature-Extracted Genetic Variants

Gene:GCC2
Variant:p.M1098V
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GCC2

NM_181453.4:p.M1098V

Associated Papers

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Zlotina A et al.

Bmc Medical Genomics, 2020

33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1

Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome.

Niitsuma S et al.

International Immunology, 2020

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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."