C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis

Whole exome sequencing and bioinformatic analysis could overcome lengthy, expensive, and emotional diagnostic adventures of challenging neurodevelopmental cases leading to improved management and prevention of irreversible side effects.

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Publication Details

Journal
Molecular Syndromology
Published
2024-11-29
DOI
https://doi.org/10.1159/000542176
Citations
1
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
0.38
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article

C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis

Fatemeh Sefid, Hosein Eslamiyeh, Farzaneh Iravani
1 citations
Molecular Syndromology
Metabolism and Genetic Disorders
0.38
article

C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis

Fatemeh Sefid, Hosein Eslamiyeh, Farzaneh Iravani
article en
1 citations

Abstract

Whole exome sequencing and bioinformatic analysis could overcome lengthy, expensive, and emotional diagnostic adventures of challenging neurodevelopmental cases leading to improved management and prevention of irreversible side effects.

Molecular SyndromologyVol. 16(4)
Shahid Sadoughi University of Medical Sciences and Health Services (IR)
Good health and well-being
Openalex Percentile: Top 33%
Metabolism and Genetic Disorders
0.38
DOIOpen Access PDFOpenAlex
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