Varaico: Literature-Extracted Genetic Variants

Gene:HPS4
Variant:p.S354T
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HPS4

NM_022081.6:p.S354T

Associated Papers

Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis.

Steinberg-Shemer O et al.

Platelets, 2022

35130804 (PubMed )
Supplement: supplement_1.pdf
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