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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PPP1R21
Variant:
p.E688delFs
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PPP1R21
NM_001193475.2:p.E688delFs
hg38:chr2:48511343 GA>G
Frequencies & domains
Associated Papers
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Rehman AU et al.
Human Mutation,
2019
30520571 (PubMed
)
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