Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.L40S
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CSF1R

NM_001288705.3:p.L40S

Associated Papers

Defining the Active Conformation of Typical Protein Kinase Domains from Substrate-Bound PDB Structures Enables Active-State AlphaFold2 Models for All 437 Human Catalytic Protein Kinases.

Gizzio J et al.

Biorxiv : the Preprint Server for Biology, 2026

Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.

Sassi C et al.

Scientific Reports, 2021

33737586 (PubMed )
Supplement: 41598_2021_85494_MOESM1_ESM.docx
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