Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.K504_V505Splc
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HSD17B4

NM_001199291.3:p.K504_V505Splc

Associated Papers

Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.

Velasco HM et al.

European Journal of Human Genetics : Ejhg, 2024

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