Varaico: Literature-Extracted Genetic Variants

Gene:HERC2
Variant:p.L2333F
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HERC2

NM_004667.6:p.L2333F

Associated Papers

Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.

Huang C et al.

Annals of Medicine, 2025

39757988 (PubMed )
Supplement: IANN_A_2447421_SM2148.zip › suppl_data › Table_S5.xlsx › Sheet1

A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy.

Mitsutake A et al.

Internal Medicine (tokyo, Japan), 2025

Evolutionary Characteristics in Primary Aldosteronism Patients.

Gao Y et al.

Hypertension (dallas, Tex. : 1979), 2025

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

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

Circulating tumor DNA as a marker of treatment response in BRAF V600E mutated non-melanoma solid tumors.

Ahlborn LB et al.

Oncotarget, 2018

30220966 (PubMed )
Supplement: oncotarget-09-32570-s003.xlsx › Sheet1

Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma.

Wang A et al.

Nature Communications, 2018

29497050 (PubMed )
Supplement: 41467_2018_3276_MOESM5_ESM.xlsx › ___1

Whole-exome sequencing identifies a novel somatic mutation in MMP8 associated with a t(1;22)-acute megakaryoblastic leukemia.

Kim Y et al.

Leukemia, 2014

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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."