Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.K238R
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MFAP1

NM_005926.3:p.K238R

Associated Papers

Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans.

Zhong S et al.

The Journal of Clinical Investigation, 2022

36107630 (PubMed )
Supplement: jci-132-152961-s071.pdf

IMPDH dysregulation in disease: a mini review.

Burrell AL et al.

Biochemical Society Transactions, 2022

Structural insights into lethal contractural syndrome type 3 (LCCS3) caused by a missense mutation of PIP5Kγ.

Zeng X et al.

The Biochemical Journal, 2018

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