Varaico: Literature-Extracted Genetic Variants

Gene:FOLR1
Variant:p.R98W
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FOLR1

NM_016729.3:p.R98W

Associated Papers

Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings.

Ohashi K et al.

Journal of Autism and Developmental Disorders, 2021

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

Ling C et al.

Bmc Medical Genetics, 2019

30642278 (PubMed )
Supplement: 12881_2018_725_MOESM2_ESM.xlsx › Sheet1

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

Lee CG et al.

Plos One, 2018

Rare allelic variants determine folate status in an unsupplemented European population.

Pavlíková M et al.

The Journal of Nutrition, 2012

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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."