Varaico: Literature-Extracted Genetic Variants

Gene:RSPO1
Variant:p.P77L
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RSPO1

NM_001242908.2:p.P77L

Associated Papers

Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.

Miao Y et al.

Molecular Genetics & Genomic Medicine, 2025

40985600 (PubMed )
Supplement: MGG3-13-e70135-s001.zip › Supplemental_Materials_2 › mother.xlsx › Sheet1

Human RSPO1 Mutation Represses Beige Adipocyte Thermogenesis and Contributes to Diet-Induced Adiposity.

Sun Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2023

36755192 (PubMed )
Supplement: ADVS-10-2207152-s001.pdf

Exome sequencing in 51 early onset non-familial CRC cases.

Thutkawkorapin J et al.

Molecular Genetics & Genomic Medicine, 2019

30809968 (PubMed )
Supplement: MGG3-7-e605-s002.xlsx › Supp_Table2__Missense_variants_
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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."