Varaico: Literature-Extracted Genetic Variants

Gene:PPM1J
Variant:p.T301_E302delFs
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PPM1J

NM_005167.7:p.T301_E302delFs

Associated Papers

Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.

Miao Y et al.

Molecular Genetics & Genomic Medicine, 2025

40985600 (PubMed )
Supplement: MGG3-13-e70135-s001.zip › Supplemental_Materials_2 › father.xlsx › Sheet1

Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia.

Tang D et al.

Reproductive Biology and Endocrinology : Rb&e, 2021

34429122 (PubMed )
Supplement: 12958_2021_815_MOESM1_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."