Varaico: Literature-Extracted Genetic Variants

Gene:MMADHC
Variant:p.F161I
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MMADHC

NM_015702.3:p.F161I

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic

Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction.

Tan X et al.

Molecular Cytogenetics, 2023

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Park KJ et al.

Annals of Laboratory Medicine, 2016

27578510 (PubMed )
Supplement: alm-36-561-s011.pdf
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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."