Varaico: Literature-Extracted Genetic Variants

Gene:WDR72
Variant:p.M121I
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WDR72

NM_182758.4:p.M121I

Associated Papers

A novel dual histone mark reader ZCWPW2 regulates meiotic recombination through lactylation and transcriptional regulation in humans and mice.

Ruan T et al.

Nucleic Acids Research, 2026

41574437 (PubMed )
Supplement: gkag049_supplemental_files.zip › Table_S6.xlsx › Table_S6

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil

Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations.

Rungroj N et al.

Clinical Genetics, 2018

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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."