Associated Papers
Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.
Sakuma I et al.
Communications Biology, 2023
37507476 (PubMed )
Supplement: 42003_2023_5160_MOESM7_ESM.xlsx › validated_by_Mutalyzer
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
Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.
Takahashi K et al.
Human Genome Variation, 2018
30302266 (PubMed )
Supplement: 41439_2018_28_MOESM5_ESM.xlsx › Sheet1
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