Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.L87L
Back to variants list

MMACHC

NM_015506.3:p.L87L

Associated Papers

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S3

Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.

Zhang X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China.

Luo H et al.

Frontiers in Genetics, 2024

A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Jian M et al.

Clinical and Translational Medicine, 2022

35665479 (PubMed )
Supplement: CTM2-12-e843-s002.xlsx › supplementary_table_10

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Wang T et al.

Frontiers in Genetics, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."