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中文
CRISPR/Cas9技术产生了一个G变T的改变，导致第161位的arginine被leucine替换（p.R161L），位于第3外显子。这是首次在婴儿神经内分泌细胞增生症家族中发现的患者突变（J:323100）。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
