Varaico: Literature-Extracted Genetic Variants

Gene:SPARCL1
Variant:p.W647R
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SPARCL1

NM_004684.6:p.W647R

Associated Papers

Mutations in Hevin/Sparcl1 and risk of autism spectrum disorder.

Taketomi T et al.

Neural Regeneration Research, 2023

Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability.

Taketomi T et al.

Scientific Reports, 2022

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1841.646
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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."