Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.H339R
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ALDH7A1

NM_001182.5:p.H339R

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf

Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.

Yang D et al.

Frontiers in Genetics, 2021

34603379 (PubMed )
Supplement: Data_Sheet_2.XLSX › DX1616_21D03390595-1

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.

Coughlin CR et al.

Journal of Inherited Metabolic Disease, 2019

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

Lee CG et al.

Plos One, 2018

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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."