Varaico: Literature-Extracted Genetic Variants

Gene:CD44
Variant:p.P93S
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CD44

NM_000610.4:p.P93S

Associated Papers

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

Bernabéu-Herrero ME et al.

Blood, 2024

38457357 (PubMed )
Supplement: BLOOD_BLD-2023-021777-mmc1.pdf

Disruption of the tumour-associated EMP3 enhances erythroid proliferation and causes the MAM-negative phenotype.

Thornton N et al.

Nature Communications, 2020

32678083 (PubMed )
Supplement: 41467_2020_17060_MOESM1_ESM.pdf
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