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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYBPC1

Variant:p.H185Y

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MYBPC1

NM_002465.4:p.H185Y

hg38:chr12:101632135 C>T

Associated Papers

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Chong JX et al.

Hgg Advances, 2023

37457373 (PubMed )

Supplement: mmc4.pdf

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