Varaico: Literature-Extracted Genetic Variants

Gene:GPD1L
Variant:p.I124M
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GPD1L

NM_015141.4:p.I124M

Associated Papers

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1

Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.

Coll M et al.

International Journal of Molecular Sciences, 2022

Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.

Zhao C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1
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