Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.F172S
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POMC

NM_000939.4:p.F172S

Associated Papers

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_10

Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance.

Naeem A et al.

Blood Advances, 2023

36287227 (PubMed )
Supplement: BLOODA_ADV-2022-008447-mmc1.xlsx › Table_S4

Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.

Shah BP et al.

Expert Review of Endocrinology & Metabolism, 2023

36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp3-POMC-OR.xlsx › Sheet1
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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."